Term Name: | congenital myopathy 4A |
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Synonyms: | CFTD, congenital fiber-type disproportion |
Definition: | A congenital myopathy that is characterized by skeletal muscle weakness, particularly in the muscles of the shoulders, upper arms, hips, and thighs. |
Ontology: | Human Disease [DOID:0080102] ( DOID:0080102 ) |