RT Journal Article
SR Electronic
T1 A novel mutation in two families with limb-girdle muscular dystrophy type 2C
JF Neurology
JO Neurology
FD Lippincott Williams & Wilkins
SP 167
OP 169
DO 10.1212/01.wnl.0000223600.78363.dd
VO 67
IS 1
A1 Duncan, D. R.
A1 Kang, P. B.
A1 Rabbat, J. C.
A1 Briggs, C. E.
A1 Lidov, H.G.W.
A1 Darras, B. T.
A1 Kunkel, L. M.
YR 2006
UL http://n.neurology.org/content/67/1/167.abstract
AB The authors present three unrelated North American patients with limb-girdle muscular dystrophy type 2C. Muscle biopsies suggested γ-sarcoglycan deficiencies for all three patients. Patients 1 and 2 had a novel homozygous E263K missense mutation on exon 8 of γ-sarcoglycan (SGCG). Patient 3 had del521T on her maternal allele and an exon 6 deletion on her paternal allele. Patients 1 and 2 are of Puerto Rican ancestry, suggesting the presence of a founder mutation in that population.