A novel mutation in two families with limb-girdle muscular dystrophy type 2C.
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.
Duncan
D R
DR
Program in Genomics, the Howard Hughes Medical Institute, Boston, MA, USA.
Kang
P B
PB
Rabbat
J C
JC
Briggs
C E
CE
Lidov
H G W
HG
Darras
B T
BT
Kunkel
L M
LM
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D064211:Connectin; D004252:DNA Mutational Analysis / Q000379:methods; D005091:Exons; D005192:Family Health; D005260:Female; D018698:Glutamic Acid / Q000235:genetics; D006801:Humans; D008239:Lysine / Q000235:genetics; D008297:Male; D009124:Muscle Proteins / Q000235:genetics*; D049288:Muscular Dystrophies, Limb-Girdle / Q000235:genetics* / Q000473:pathology; D009154:Mutation
D064211:Connectin; D009124:Muscle Proteins; C577292:TCAP protein, human; D018698:Glutamic Acid; D008239:Lysine