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Keyword Congenital muscular dystrophy

UniProtKB (4) rdf/xml obo
DefinitionThe congenital muscular dystrophies (CMD) are a heterogeneous group of autosomal recessive disorders presenting in infancy with muscle weakness, contractures, and dystrophic changes on skeletal muscle biopsy. Structural brain defects, with or without mental retardation, are additional features of several CMD syndromes.
CategoryDisease