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.
Congenital myopathies are phenotypically and genetically heterogeneous.1 While SCN4A mutations were previously described in hypokalemic or hyperkalemic periodic paralysis, paramyotonia, myotonia congenita, or myasthenic syndrome,2–6 loss-of-function recessive mutations in SCN4A were recently identified in 11 individuals with severe fetal hypokinesia or congenital myopathies.7 Among them, 7 died in the perinatal period and 4 had congenital hypotonia, significant respiratory and swallowing difficulties, and spinal deformities.
Acknowledgments
Acknowledgment: The authors thank the family who participated in this study and the collaborators who contributed to this work: Julie Perrier, Raphaël Schneider, Valérie Biancalana, Vanessa Schartner, Christine Kretz, Antoine Hamel, Anne Dariel, Julie Thompson, Emmanuelle Fleurence, and Jean-Yves Mahé.
Footnotes
↵* These authors contributed equally as co–first authors.
↵‡ These authors contributed equally as co–last authors.
Supplemental data at Neurology.org
Author contributions: Dr. Mercier: acquisition of data, critical revision of the manuscript, study supervision. Dr. Lornage: acquisition, analysis and interpretation of molecular data, critical revision of the manuscript. Dr. Malfatti: acquisition of data, critical revision of the manuscript. Dr. Marcorelles: acquisition of data. Dr. Letournel: acquisition of data. Dr. Boscher: acquisition of data. Dr. Caillaux: acquisition of data. Dr. Magot: critical revision of the manuscript. Dr. Böhm: acquisition, analysis and interpretation of molecular data. Dr. Boland: genomic data generation. Dr. Deleuze: genomic data generation. Dr. Romero: acquisition of data, critical revision of the manuscript. Dr. Péréon: acquisition of data, critical revision of the manuscript, study supervision. Dr. Laporte: analysis and interpretation of genetic data, critical revision of the manuscript, study supervision.
Study funding: This work was supported by Fondation pour la Recherche Médicale and the France Génomique National infrastructure and funded as part of the “Investissements d'Avenir” program managed by the Agence Nationale pour la Recherche (ANR-10-INBS-09) and by Fondation Maladies Rares within the frame of the “Myocapture” sequencing project.
Disclosure: S. Mercier reports no disclosures relevant to the manuscript. X. Lornage received research support from the Fondation pour la Recherche Médicale and the France Génomique National infrastructure and was funded as part of the “Investissements d'Avenir” program managed by the Agence Nationale pour la Recherche (ANR-10-INBS-09) and the Fondation Maladies Rares within the frame of the “Myocapture” sequencing project. E. Malfatti, P. Marcorelles, F. Letournel, C. Boscher, G. Caillaux, and A. Magot report no disclosures relevant to the manuscript. J. Böhm received research support from the Fondation pour la Recherche Médicale and the France Génomique National infrastructure and was funded as part of the “Investissements d'Avenir” program managed by the Agence Nationale pour la Recherche (ANR-10-INBS-09) and the Fondation Maladies Rares within the frame of the “Myocapture” sequencing project. A. Boland, F. Deleuze, N. Romero, and Y. Pereon report no disclosures relevant to the manuscript. J. Laporte received research support from the Fondation pour la Recherche Médicale and the France Génomique National infrastructure and was funded as part of the “Investissements d'Avenir” program managed by the Agence Nationale pour la Recherche (ANR-10-INBS-09) and the Fondation Maladies Rares within the frame of the “Myocapture” sequencing project. Go to Neurology.org for full disclosures.
- Received May 17, 2016.
- Accepted in final form October 19, 2016.
- © 2016 American Academy of Neurology
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.
AAN Non-Member Subscribers
Purchase access
Letters: Rapid online correspondence
REQUIREMENTS
You must ensure that your Disclosures have been updated within the previous six months. Please go to our Submission Site to add or update your Disclosure information.
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.
