PT  - JOURNAL ARTICLE
AU  - Duncan, D. R.
AU  - Kang, P. B.
AU  - Rabbat, J. C.
AU  - Briggs, C. E.
AU  - Lidov, H.G.W.
AU  - Darras, B. T.
AU  - Kunkel, L. M.
TI  - A novel mutation in two families with limb-girdle muscular dystrophy type 2C
AID  - 10.1212/01.wnl.0000223600.78363.dd
DP  - 2006 Jul 11
TA  - Neurology
PG  - 167--169
VI  - 67
IP  - 1
4099  - http://n.neurology.org/content/67/1/167.short
4100  - http://n.neurology.org/content/67/1/167.full
SO  - Neurology2006 Jul 11; 67
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.