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Mutations in the Sarcoglycan Genes in Patients with Myopathy NEJM 336:618-624, Duggan,D.J.,et al, 1997 See this aricle in Pubmed Article Abstract Levels of a-sarcoglycan were found to be decreased on immunostaining of muscle-biopsy specimens from 54 of the 556 patients(10 percent);in 25 of these patients no a-sarcoglycan was detected.Screening for sarcoglycan- gene mutations in 50 of the 54 patients revealed mutations in 29 patients (58 percent):17(34 percent)had mutations in the a-sarcoglycan gene,8(16 percent)in the b-sarcoglycan gene,and 4(8 percent)in the y-sarcoglycan gene.No mutations were found in 21 patients(42 percent).The prevalence of sarcoglycan-gene mutations was highest among patients with severe (Duchenne-like)muscular dystrophy that began in childhood(18 of 83 patients,or 22 percent);the prevalence among patients with proximal(limb- girdle)muscular dystrophy with a later onset was 6 percent(11 of 180 patients).Defects in the genes coding for the sarcoglycan proteins are limited to patients with Duchenne-like and limb-girdle muscular dystrophy with normal dystrophin and occur in 11 percent of such patients.

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(click to filter results - removes previous filter) dystrophin dystrophin associated proteins gene gene mutation genetic neurologic disorders misdiagnosis molecular genetics muscle biopsy muscular dystrophy muscular dystrophy,dystrophin normal muscular dystrophy,limb-girdle sarcoglycan weakness,progressive

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