Term Name: | centronuclear myopathy 6 with fiber-type disproportion |
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Synonyms: | CNM6 |
Definition: | An autosomal recessive centronuclear myopathy that is characterized by onset in infancy or early childhood of slowly progressive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ZAK gene on 2q31.1. |
Ontology: | Human Disease [DOID:0111221] ( DOID:0111221 ) |