Disease

centronuclear myopathy 6 with fiber-type disproportion

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.

Synonyms

CNM6

Cross References

MIM:617760

Parent Terms

autosomal recessive centronuclear myopathy

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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