Skip to main content
Advertisement
  • Neurology.org
  • Journals
    • Neurology
    • Clinical Practice
    • Genetics
    • Neuroimmunology & Neuroinflammation
    • Education
  • Online Sections
    • Neurology Video Journal Club
    • Inclusion, Diversity, Equity, Anti-racism, & Social Justice (IDEAS)
    • Innovations in Care Delivery
    • Practice Buzz
    • Practice Current
    • Residents & Fellows
    • Without Borders
  • Collections
    • COVID-19
    • Disputes & Debates
    • Health Disparities
    • Infographics
    • Null Hypothesis
    • Patient Pages
    • Topics A-Z
    • Translations
  • Podcast
  • CME
  • About
    • About the Journals
    • Contact Us
    • Editorial Board
  • Authors
    • Submit a Manuscript
    • Author Center

Advanced Search

Main menu

  • Neurology.org
  • Journals
    • Neurology
    • Clinical Practice
    • Genetics
    • Neuroimmunology & Neuroinflammation
    • Education
  • Online Sections
    • Neurology Video Journal Club
    • Inclusion, Diversity, Equity, Anti-racism, & Social Justice (IDEAS)
    • Innovations in Care Delivery
    • Practice Buzz
    • Practice Current
    • Residents & Fellows
    • Without Borders
  • Collections
    • COVID-19
    • Disputes & Debates
    • Health Disparities
    • Infographics
    • Null Hypothesis
    • Patient Pages
    • Topics A-Z
    • Translations
  • Podcast
  • CME
  • About
    • About the Journals
    • Contact Us
    • Editorial Board
  • Authors
    • Submit a Manuscript
    • Author Center
  • Home
  • Latest Articles
  • Current Issue
  • Past Issues
  • Residents & Fellows

User menu

  • Subscribe
  • My Alerts
  • Log in

Search

  • Advanced search
Neurology
Home
The most widely read and highly cited peer-reviewed neurology journal
  • Subscribe
  • My Alerts
  • Log in
Site Logo
  • Home
  • Latest Articles
  • Current Issue
  • Past Issues
  • Residents & Fellows

Share

October 15, 2019; 93 (16) Article

Adult MTM1-related myopathy carriers

Classification based on deep phenotyping

View ORCID ProfileBenjamin T. Cocanougher, Lauren Flynn, Pomi Yun, Minal Jain, Melissa Waite, Ruhi Vasavada, Jason D. Wittenbach, Sabine de Chastonay, Sameer Chhibber, A. Micheil Innes, Linda MacLaren, Tahseen Mozaffar, Andrew E. Arai, Sandra Donkervoort, View ORCID ProfileCarsten G. Bönnemann, A. Reghan Foley
First published September 20, 2019, DOI: https://doi.org/10.1212/WNL.0000000000008316
Benjamin T. Cocanougher
From the University of Rochester School of Medicine and Dentistry (B.T.C.), NY; Howard Hughes Medical Institute Janelia Research Campus (B.T.C., J.D.W.), Ashburn, VA; St Catharine's College (B.T.C.), University of Cambridge, UK; Clinical Center, NINDS (L.F.), Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, NINDS (P.Y., S.D., C.G.B., A.R.F.), Clinical Research Center, Rehabilitation Medicine Department (M.J., M.W., R.V.), and Advanced Cardiovascular Imaging Laboratory, NHLBI (A.E.A.), NIH, Bethesda, MD; Congenital Muscle Disease International Registry (CMDIR) (S.d.C.), Cure CMD, Torrance, CA; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine (A.M.I.), and Department of Clinical Neurosciences (S.C.), University of Calgary; Department of Medical Genetics and Alberta Children's Hospital (L.M.), Calgary, Canada; and Department of Neurology (T.M.), University of California, Irvine.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Benjamin T. Cocanougher
Lauren Flynn
From the University of Rochester School of Medicine and Dentistry (B.T.C.), NY; Howard Hughes Medical Institute Janelia Research Campus (B.T.C., J.D.W.), Ashburn, VA; St Catharine's College (B.T.C.), University of Cambridge, UK; Clinical Center, NINDS (L.F.), Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, NINDS (P.Y., S.D., C.G.B., A.R.F.), Clinical Research Center, Rehabilitation Medicine Department (M.J., M.W., R.V.), and Advanced Cardiovascular Imaging Laboratory, NHLBI (A.E.A.), NIH, Bethesda, MD; Congenital Muscle Disease International Registry (CMDIR) (S.d.C.), Cure CMD, Torrance, CA; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine (A.M.I.), and Department of Clinical Neurosciences (S.C.), University of Calgary; Department of Medical Genetics and Alberta Children's Hospital (L.M.), Calgary, Canada; and Department of Neurology (T.M.), University of California, Irvine.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Pomi Yun
From the University of Rochester School of Medicine and Dentistry (B.T.C.), NY; Howard Hughes Medical Institute Janelia Research Campus (B.T.C., J.D.W.), Ashburn, VA; St Catharine's College (B.T.C.), University of Cambridge, UK; Clinical Center, NINDS (L.F.), Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, NINDS (P.Y., S.D., C.G.B., A.R.F.), Clinical Research Center, Rehabilitation Medicine Department (M.J., M.W., R.V.), and Advanced Cardiovascular Imaging Laboratory, NHLBI (A.E.A.), NIH, Bethesda, MD; Congenital Muscle Disease International Registry (CMDIR) (S.d.C.), Cure CMD, Torrance, CA; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine (A.M.I.), and Department of Clinical Neurosciences (S.C.), University of Calgary; Department of Medical Genetics and Alberta Children's Hospital (L.M.), Calgary, Canada; and Department of Neurology (T.M.), University of California, Irvine.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Minal Jain
From the University of Rochester School of Medicine and Dentistry (B.T.C.), NY; Howard Hughes Medical Institute Janelia Research Campus (B.T.C., J.D.W.), Ashburn, VA; St Catharine's College (B.T.C.), University of Cambridge, UK; Clinical Center, NINDS (L.F.), Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, NINDS (P.Y., S.D., C.G.B., A.R.F.), Clinical Research Center, Rehabilitation Medicine Department (M.J., M.W., R.V.), and Advanced Cardiovascular Imaging Laboratory, NHLBI (A.E.A.), NIH, Bethesda, MD; Congenital Muscle Disease International Registry (CMDIR) (S.d.C.), Cure CMD, Torrance, CA; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine (A.M.I.), and Department of Clinical Neurosciences (S.C.), University of Calgary; Department of Medical Genetics and Alberta Children's Hospital (L.M.), Calgary, Canada; and Department of Neurology (T.M.), University of California, Irvine.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Melissa Waite
From the University of Rochester School of Medicine and Dentistry (B.T.C.), NY; Howard Hughes Medical Institute Janelia Research Campus (B.T.C., J.D.W.), Ashburn, VA; St Catharine's College (B.T.C.), University of Cambridge, UK; Clinical Center, NINDS (L.F.), Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, NINDS (P.Y., S.D., C.G.B., A.R.F.), Clinical Research Center, Rehabilitation Medicine Department (M.J., M.W., R.V.), and Advanced Cardiovascular Imaging Laboratory, NHLBI (A.E.A.), NIH, Bethesda, MD; Congenital Muscle Disease International Registry (CMDIR) (S.d.C.), Cure CMD, Torrance, CA; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine (A.M.I.), and Department of Clinical Neurosciences (S.C.), University of Calgary; Department of Medical Genetics and Alberta Children's Hospital (L.M.), Calgary, Canada; and Department of Neurology (T.M.), University of California, Irvine.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Ruhi Vasavada
From the University of Rochester School of Medicine and Dentistry (B.T.C.), NY; Howard Hughes Medical Institute Janelia Research Campus (B.T.C., J.D.W.), Ashburn, VA; St Catharine's College (B.T.C.), University of Cambridge, UK; Clinical Center, NINDS (L.F.), Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, NINDS (P.Y., S.D., C.G.B., A.R.F.), Clinical Research Center, Rehabilitation Medicine Department (M.J., M.W., R.V.), and Advanced Cardiovascular Imaging Laboratory, NHLBI (A.E.A.), NIH, Bethesda, MD; Congenital Muscle Disease International Registry (CMDIR) (S.d.C.), Cure CMD, Torrance, CA; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine (A.M.I.), and Department of Clinical Neurosciences (S.C.), University of Calgary; Department of Medical Genetics and Alberta Children's Hospital (L.M.), Calgary, Canada; and Department of Neurology (T.M.), University of California, Irvine.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Jason D. Wittenbach
From the University of Rochester School of Medicine and Dentistry (B.T.C.), NY; Howard Hughes Medical Institute Janelia Research Campus (B.T.C., J.D.W.), Ashburn, VA; St Catharine's College (B.T.C.), University of Cambridge, UK; Clinical Center, NINDS (L.F.), Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, NINDS (P.Y., S.D., C.G.B., A.R.F.), Clinical Research Center, Rehabilitation Medicine Department (M.J., M.W., R.V.), and Advanced Cardiovascular Imaging Laboratory, NHLBI (A.E.A.), NIH, Bethesda, MD; Congenital Muscle Disease International Registry (CMDIR) (S.d.C.), Cure CMD, Torrance, CA; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine (A.M.I.), and Department of Clinical Neurosciences (S.C.), University of Calgary; Department of Medical Genetics and Alberta Children's Hospital (L.M.), Calgary, Canada; and Department of Neurology (T.M.), University of California, Irvine.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Sabine de Chastonay
From the University of Rochester School of Medicine and Dentistry (B.T.C.), NY; Howard Hughes Medical Institute Janelia Research Campus (B.T.C., J.D.W.), Ashburn, VA; St Catharine's College (B.T.C.), University of Cambridge, UK; Clinical Center, NINDS (L.F.), Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, NINDS (P.Y., S.D., C.G.B., A.R.F.), Clinical Research Center, Rehabilitation Medicine Department (M.J., M.W., R.V.), and Advanced Cardiovascular Imaging Laboratory, NHLBI (A.E.A.), NIH, Bethesda, MD; Congenital Muscle Disease International Registry (CMDIR) (S.d.C.), Cure CMD, Torrance, CA; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine (A.M.I.), and Department of Clinical Neurosciences (S.C.), University of Calgary; Department of Medical Genetics and Alberta Children's Hospital (L.M.), Calgary, Canada; and Department of Neurology (T.M.), University of California, Irvine.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Sameer Chhibber
From the University of Rochester School of Medicine and Dentistry (B.T.C.), NY; Howard Hughes Medical Institute Janelia Research Campus (B.T.C., J.D.W.), Ashburn, VA; St Catharine's College (B.T.C.), University of Cambridge, UK; Clinical Center, NINDS (L.F.), Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, NINDS (P.Y., S.D., C.G.B., A.R.F.), Clinical Research Center, Rehabilitation Medicine Department (M.J., M.W., R.V.), and Advanced Cardiovascular Imaging Laboratory, NHLBI (A.E.A.), NIH, Bethesda, MD; Congenital Muscle Disease International Registry (CMDIR) (S.d.C.), Cure CMD, Torrance, CA; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine (A.M.I.), and Department of Clinical Neurosciences (S.C.), University of Calgary; Department of Medical Genetics and Alberta Children's Hospital (L.M.), Calgary, Canada; and Department of Neurology (T.M.), University of California, Irvine.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
A. Micheil Innes
From the University of Rochester School of Medicine and Dentistry (B.T.C.), NY; Howard Hughes Medical Institute Janelia Research Campus (B.T.C., J.D.W.), Ashburn, VA; St Catharine's College (B.T.C.), University of Cambridge, UK; Clinical Center, NINDS (L.F.), Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, NINDS (P.Y., S.D., C.G.B., A.R.F.), Clinical Research Center, Rehabilitation Medicine Department (M.J., M.W., R.V.), and Advanced Cardiovascular Imaging Laboratory, NHLBI (A.E.A.), NIH, Bethesda, MD; Congenital Muscle Disease International Registry (CMDIR) (S.d.C.), Cure CMD, Torrance, CA; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine (A.M.I.), and Department of Clinical Neurosciences (S.C.), University of Calgary; Department of Medical Genetics and Alberta Children's Hospital (L.M.), Calgary, Canada; and Department of Neurology (T.M.), University of California, Irvine.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Linda MacLaren
From the University of Rochester School of Medicine and Dentistry (B.T.C.), NY; Howard Hughes Medical Institute Janelia Research Campus (B.T.C., J.D.W.), Ashburn, VA; St Catharine's College (B.T.C.), University of Cambridge, UK; Clinical Center, NINDS (L.F.), Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, NINDS (P.Y., S.D., C.G.B., A.R.F.), Clinical Research Center, Rehabilitation Medicine Department (M.J., M.W., R.V.), and Advanced Cardiovascular Imaging Laboratory, NHLBI (A.E.A.), NIH, Bethesda, MD; Congenital Muscle Disease International Registry (CMDIR) (S.d.C.), Cure CMD, Torrance, CA; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine (A.M.I.), and Department of Clinical Neurosciences (S.C.), University of Calgary; Department of Medical Genetics and Alberta Children's Hospital (L.M.), Calgary, Canada; and Department of Neurology (T.M.), University of California, Irvine.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Tahseen Mozaffar
From the University of Rochester School of Medicine and Dentistry (B.T.C.), NY; Howard Hughes Medical Institute Janelia Research Campus (B.T.C., J.D.W.), Ashburn, VA; St Catharine's College (B.T.C.), University of Cambridge, UK; Clinical Center, NINDS (L.F.), Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, NINDS (P.Y., S.D., C.G.B., A.R.F.), Clinical Research Center, Rehabilitation Medicine Department (M.J., M.W., R.V.), and Advanced Cardiovascular Imaging Laboratory, NHLBI (A.E.A.), NIH, Bethesda, MD; Congenital Muscle Disease International Registry (CMDIR) (S.d.C.), Cure CMD, Torrance, CA; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine (A.M.I.), and Department of Clinical Neurosciences (S.C.), University of Calgary; Department of Medical Genetics and Alberta Children's Hospital (L.M.), Calgary, Canada; and Department of Neurology (T.M.), University of California, Irvine.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Andrew E. Arai
From the University of Rochester School of Medicine and Dentistry (B.T.C.), NY; Howard Hughes Medical Institute Janelia Research Campus (B.T.C., J.D.W.), Ashburn, VA; St Catharine's College (B.T.C.), University of Cambridge, UK; Clinical Center, NINDS (L.F.), Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, NINDS (P.Y., S.D., C.G.B., A.R.F.), Clinical Research Center, Rehabilitation Medicine Department (M.J., M.W., R.V.), and Advanced Cardiovascular Imaging Laboratory, NHLBI (A.E.A.), NIH, Bethesda, MD; Congenital Muscle Disease International Registry (CMDIR) (S.d.C.), Cure CMD, Torrance, CA; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine (A.M.I.), and Department of Clinical Neurosciences (S.C.), University of Calgary; Department of Medical Genetics and Alberta Children's Hospital (L.M.), Calgary, Canada; and Department of Neurology (T.M.), University of California, Irvine.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Sandra Donkervoort
From the University of Rochester School of Medicine and Dentistry (B.T.C.), NY; Howard Hughes Medical Institute Janelia Research Campus (B.T.C., J.D.W.), Ashburn, VA; St Catharine's College (B.T.C.), University of Cambridge, UK; Clinical Center, NINDS (L.F.), Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, NINDS (P.Y., S.D., C.G.B., A.R.F.), Clinical Research Center, Rehabilitation Medicine Department (M.J., M.W., R.V.), and Advanced Cardiovascular Imaging Laboratory, NHLBI (A.E.A.), NIH, Bethesda, MD; Congenital Muscle Disease International Registry (CMDIR) (S.d.C.), Cure CMD, Torrance, CA; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine (A.M.I.), and Department of Clinical Neurosciences (S.C.), University of Calgary; Department of Medical Genetics and Alberta Children's Hospital (L.M.), Calgary, Canada; and Department of Neurology (T.M.), University of California, Irvine.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Carsten G. Bönnemann
From the University of Rochester School of Medicine and Dentistry (B.T.C.), NY; Howard Hughes Medical Institute Janelia Research Campus (B.T.C., J.D.W.), Ashburn, VA; St Catharine's College (B.T.C.), University of Cambridge, UK; Clinical Center, NINDS (L.F.), Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, NINDS (P.Y., S.D., C.G.B., A.R.F.), Clinical Research Center, Rehabilitation Medicine Department (M.J., M.W., R.V.), and Advanced Cardiovascular Imaging Laboratory, NHLBI (A.E.A.), NIH, Bethesda, MD; Congenital Muscle Disease International Registry (CMDIR) (S.d.C.), Cure CMD, Torrance, CA; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine (A.M.I.), and Department of Clinical Neurosciences (S.C.), University of Calgary; Department of Medical Genetics and Alberta Children's Hospital (L.M.), Calgary, Canada; and Department of Neurology (T.M.), University of California, Irvine.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Carsten G. Bönnemann
A. Reghan Foley
From the University of Rochester School of Medicine and Dentistry (B.T.C.), NY; Howard Hughes Medical Institute Janelia Research Campus (B.T.C., J.D.W.), Ashburn, VA; St Catharine's College (B.T.C.), University of Cambridge, UK; Clinical Center, NINDS (L.F.), Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, NINDS (P.Y., S.D., C.G.B., A.R.F.), Clinical Research Center, Rehabilitation Medicine Department (M.J., M.W., R.V.), and Advanced Cardiovascular Imaging Laboratory, NHLBI (A.E.A.), NIH, Bethesda, MD; Congenital Muscle Disease International Registry (CMDIR) (S.d.C.), Cure CMD, Torrance, CA; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine (A.M.I.), and Department of Clinical Neurosciences (S.C.), University of Calgary; Department of Medical Genetics and Alberta Children's Hospital (L.M.), Calgary, Canada; and Department of Neurology (T.M.), University of California, Irvine.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Full PDF
Short Form
Citation
Adult MTM1-related myopathy carriers
Classification based on deep phenotyping
Benjamin T. Cocanougher, Lauren Flynn, Pomi Yun, Minal Jain, Melissa Waite, Ruhi Vasavada, Jason D. Wittenbach, Sabine de Chastonay, Sameer Chhibber, A. Micheil Innes, Linda MacLaren, Tahseen Mozaffar, Andrew E. Arai, Sandra Donkervoort, Carsten G. Bönnemann, A. Reghan Foley
Neurology Oct 2019, 93 (16) e1535-e1542; DOI: 10.1212/WNL.0000000000008316

Citation Manager Formats

  • BibTeX
  • Bookends
  • EasyBib
  • EndNote (tagged)
  • EndNote 8 (xml)
  • Medlars
  • Mendeley
  • Papers
  • RefWorks Tagged
  • Ref Manager
  • RIS
  • Zotero
Permissions

Make Comment

See Comments

Downloads
282

Share

  • Article
  • Figures & Data
  • Info & Disclosures
Loading

This article requires a subscription to view the full text. If you have a subscription you may use the login form below to view the article. Access to this article can also be purchased.

Abstract

Objective To better characterize adult myotubularin 1 (MTM1)–related myopathy carriers and recommend a phenotypic classification.

Methods This cohort study was performed at the NIH Clinical Center. Participants were required to carry a confirmed MTM1 mutation and were recruited via the Congenital Muscle Disease International Registry (n = 8), a traveling local clinic of the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, NIH and Cure CMD (n = 1), and direct physician referral (n = 1). Neuromuscular examinations, muscle MRI, dynamic breathing MRI, cardiac MRI, pulmonary function tests (PFTs), physical therapy assessments including the Motor Function Measure 32 (MFM-32) scale, and X chromosome inactivation (XCI) studies were performed.

Results Phenotypic categories were proposed based on ambulatory status and muscle weakness. Carriers were categorized as severe (nonambulatory; n = 1), moderate (minimal independent ambulation/assisted ambulation; n = 3), mild (independent ambulation but with evidence of muscle weakness; n = 4), and nonmanifesting (no evidence of muscle weakness; n = 2). Carriers with more severe muscle weakness exhibited greater degrees of respiratory insufficiency and abnormal signal on muscle imaging. Skeletal asymmetries were evident in both manifesting and nonmanifesting carriers. Skewed XCI did not explain phenotypic severity.

Conclusion This work illustrates the phenotypic range of MTM1-related myopathy carriers in adulthood and recommends a phenotypic classification. This classification, defined by ambulatory status and muscle weakness, is supported by muscle MRI, PFT, and MFM-32 scale composite score findings, which may serve as markers of disease progression and outcome measures in future gene therapy or other clinical trials.

Glossary

FVC=
forced vital capacity;
MFM-32=
Motor Function Measure 32;
MTM1=
myotubularin 1;
PFT=
pulmonary function test;
SID=
SET-interacting domain;
XCI=
X chromosome inactivation

Footnotes

  • ↵* These authors contributed equally to this work.

  • Go to Neurology.org/N for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.

  • Received December 23, 2018.
  • Accepted in final form May 13, 2019.
  • © 2019 American Academy of Neurology
View Full Text

AAN Members

We have changed the login procedure to improve access between AAN.com and the Neurology journals. If you are experiencing issues, please log out of AAN.com and clear history and cookies. (For instructions by browser, please click the instruction pages below). After clearing, choose preferred Journal and select login for AAN Members. You will be redirected to a login page where you can log in with your AAN ID number and password. When you are returned to the Journal, your name should appear at the top right of the page.

Google Safari Microsoft Edge Firefox

Click here to login

AAN Non-Member Subscribers

Click here to login

Purchase access

For assistance, please contact:
AAN Members (800) 879-1960 or (612) 928-6000 (International)
Non-AAN Member subscribers (800) 638-3030 or (301) 223-2300 option 3, select 1 (international)

Sign Up
Information on how to subscribe to Neurology and Neurology: Clinical Practice can be found here 

Purchase
Individual access to articles is available through the Add to Cart option on the article page.  Access for 1 day (from the computer you are currently using) is US$ 39.00.  Pay-per-view content is for the use of the payee only, and content may not be further distributed by print or electronic means.  The payee may view, download, and/or print the article for his/her personal, scholarly, research, and educational use.  Distributing copies (electronic or otherwise) of the article is not allowed.

Disputes & Debates: Rapid online correspondence

No comments have been published for this article.
Comment

REQUIREMENTS

If you are uploading a letter concerning an article:
You must have updated your disclosures within six months: http://submit.neurology.org

Your co-authors must send a completed Publishing Agreement Form to Neurology Staff (not necessary for the lead/corresponding author as the form below will suffice) before you upload your comment.

If you are responding to a comment that was written about an article you originally authored:
You (and co-authors) do not need to fill out forms or check disclosures as author forms are still valid
and apply to letter.

Submission specifications:

  • Submissions must be < 200 words with < 5 references. Reference 1 must be the article on which you are commenting.
  • Submissions should not have more than 5 authors. (Exception: original author replies can include all original authors of the article)
  • Submit only on articles published within 6 months of issue date.
  • Do not be redundant. Read any comments already posted on the article prior to submission.
  • Submitted comments are subject to editing and editor review prior to posting.

More guidelines and information on Disputes & Debates

Compose Comment

More information about text formats

Plain text

  • No HTML tags allowed.
  • Web page addresses and e-mail addresses turn into links automatically.
  • Lines and paragraphs break automatically.
Author Information
NOTE: The first author must also be the corresponding author of the comment.
First or given name, e.g. 'Peter'.
Your last, or family, name, e.g. 'MacMoody'.
Your email address, e.g. higgs-boson@gmail.com
Your role and/or occupation, e.g. 'Orthopedic Surgeon'.
Your organization or institution (if applicable), e.g. 'Royal Free Hospital'.
Publishing Agreement
NOTE: All authors, besides the first/corresponding author, must complete a separate Publishing Agreement Form and provide via email to the editorial office before comments can be posted.
CAPTCHA
This question is for testing whether or not you are a human visitor and to prevent automated spam submissions.

Vertical Tabs

You May Also be Interested in

Back to top
  • Article
    • Abstract
    • Glossary
    • Methods
    • Results
    • Discussion
    • Study funding
    • Disclosure
    • Acknowledgment
    • Appendix Authors
    • Footnotes
    • References
  • Figures & Data
  • Info & Disclosures
Advertisement

Related Articles

  • No related articles found.

Topics Discussed

  • All Neuromuscular Disease
  • All Genetics
  • Clinical neurology examination
  • Gene therapy
  • Muscle disease

Alert Me

  • Alert me when eletters are published
Neurology: 99 (1)

Articles

  • Ahead of Print
  • Current Issue
  • Past Issues
  • Popular Articles
  • Translations

About

  • About the Journals
  • Ethics Policies
  • Editors & Editorial Board
  • Contact Us
  • Advertise

Submit

  • Author Center
  • Submit a Manuscript
  • Information for Reviewers
  • AAN Guidelines
  • Permissions

Subscribers

  • Subscribe
  • Activate a Subscription
  • Sign up for eAlerts
  • RSS Feed
Site Logo
  • Visit neurology Template on Facebook
  • Follow neurology Template on Twitter
  • Visit Neurology on YouTube
  • Neurology
  • Neurology: Clinical Practice
  • Neurology: Genetics
  • Neurology: Neuroimmunology & Neuroinflammation
  • Neurology: Education
  • AAN.com
  • AANnews
  • Continuum
  • Brain & Life
  • Neurology Today

Wolters Kluwer Logo

Neurology | Print ISSN:0028-3878
Online ISSN:1526-632X

© 2022 American Academy of Neurology

  • Privacy Policy
  • Feedback
  • Advertise