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New missense mutation in the alpha-sarcoglycan gene in a Japanese patient with severe childhood autosomal recessive muscular dystrophy with incomplete alpha-sarcoglycan deficiency

Rare DiseasesMendelian DisorderGenetic DisorderNew Missense MutationGeneticsAlpha-sarcoglycan GenePathologyDegenerative DiseaseDisease Gene IdentificationMedicineClinical GeneticsJapanese Patient