DISEASES

Disease-gene associations mined from literature

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,  DOID:0080102,  congenital fibertype disproportion,  congenital fiber-type disproportions,  CFTD