Article

A novel mutation in two families with limb-girdle muscular dystrophy type 2C.

Program in Genomics, the Howard Hughes Medical Institute, Boston, MA, USA.
Neurology (impact factor: 8.31). 08/2006; 67(1):167-9. DOI:10.1212/01.wnl.0000223600.78363.dd pp.167-9
Source: PubMed

ABSTRACT The authors present three unrelated North American patients with limb-girdle muscular dystrophy type 2C. Muscle biopsies suggested gamma-sarcoglycan deficiencies for all three patients. Patients 1 and 2 had a novel homozygous E263K missense mutation on exon 8 of gamma-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.

0 0
 · 
0 Bookmarks
 · 
23 Views
Data provided are for informational purposes only. Although carefully collected, accuracy cannot be guaranteed. The impact factor represents a rough estimation of the journal's impact factor and does not reflect the actual current impact factor. Publisher conditions are provided by RoMEO. Differing provisions from the publisher's actual policy or licence agreement may be applicable.

Keywords

authors present
 
exon 8
 
gamma-sarcoglycan
 
gamma-sarcoglycan deficiencies
 
limb-girdle muscular dystrophy type 2C
 
maternal allele
 
Muscle biopsies
 
novel homozygous E263K missense mutation
 
Patients 1
 
three patients
 

D R Duncan