ISSN:
1432-1459
Keywords:
Key words Limb girdle muscular dystrophy
;
Sarcoglycanopathy
;
Mutation analysis
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract Within a group of 76 sporadic/autosomal recessive limb girdle muscular dystrophy (LGMD) patients we tried to identify those with LGMD type 2C-E. Muscle biopsy specimens of 40 index patients, who had 22 affected sibs, were analyzed immuno-histochemically for the presence of three subunits: α-, β-, and γ,-sarcoglycans. Abnormal sarcoglycan expression was established in eight patients, with six affected sibs. In one patient γ-sarcoglycan was absent, and both α- and β-sarcoglycans were reduced. In the remaining seven patients γ-sarcoglycan was (slightly) reduced, and α- and β-sarcoglycans were absent or reduced. By DNA sequencing mutations were detected in one of the three sarcoglycan genes in all eight cases. Three patients had mutations in the α-, three in the β-, and two in the γ-sarcoglycan gene. The patients with sarcoglycanopathy comprised the more severely affected cases (P=0.04). In conclusion, sarcoglycanopathy was identified in 23% (14/62) of the autosomal recessive LGMD patients.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/s004150070151
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