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nemaline myopathy 11

http://purl.obolibrary.org/obo/DOID_0110933

A nemaline myopathy characterized by onset of slowly progressive muscle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the MYPN gene on chromosome 10q21. [ http://purl.obolibrary.org/obo/ECO_0007645 ]

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Label

nemaline myopathy 11

Synonyms

NEM11
nemaline myopathy 11, autosomal recessive

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disease_ontology

DOID:0110933

Term relations

Subclass of:

nemaline myopathy
autosomal recessive disease
has material basis in some autosomal recessive inheritance