Human genes for congenital fiber-type disproportion
Congenital fiber-type disproportion [DOID:0080102]
A congenital myopathy that is characterized by skeletal muscle weakness, particularly in the muscles of the shoulders, upper arms, hips, and thighs.
Synonyms: congenital fiber-type disproportion, congenital fibertype disproportion, congenital fiber-type disproportions, DOID:0080102, CFTD