DISEASES

Disease-gene associations mined from literature

Human genes for centronuclear myopathy 6 with fiber-type disproportion

Centronuclear myopathy 6 with fiber-type disproportion [DOID:0111221]

A congenital fiber-type disproportion characterized by onset in infancy or early childhood of slowly progressive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in ZAK on 2q31.1.

Synonyms:  centronuclear myopathy 6 with fiber-type disproportion,  DOID:0111221,  centronuclear myopathy 6 with fibertype disproportion,  CNM6