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, centronuclear myopathy 6 with fibertype disproportion, DOID:0111221, CNM6