centronuclear myopathy 6 with fiber-type disproportion

Term ID

DOID:0111221

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. https://www.ncbi.nlm.nih.gov/pubmed/27816943

References

• MIM:617760

Ontology

Human Disease   ( DOID:0111221 )