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Keyword Congenital muscular dystrophy

UniProtKB (11) rdf/xml obo
DefinitionThe congenital muscular dystrophies (CMD) are a heterogeneous group of disorders characterized by hypotonia, muscle weakness, dystrophic changes on skeletal muscle biopsy, and joint contractures that present at birth or during the first 6 months of life. Mental retardation with or without structural brain changes are defects, with or without mental retardation, are additional features of several CMD syndromes.
CategoryDisease
GraphicalDiseaseCongenital muscular dystrophy