Congenital universal muscular hypoplasia: evidence for autosomal recessive inheritance.
Congenital universal muscular hypoplasia has been confused with similar diseases in the past. Evidence presented in this paper distinguishes this disorder from other phenotypically similar ones and indicates that it is inherited as an autosomal recessive disorder.
D000328:Adult; D001706:Biopsy; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D009123:Muscle Hypotonia / Q000235:genetics; D009132:Muscles / Q000473:pathology; D009135:Muscular Diseases / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype