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Metadata
ID DOID:0110933
Name nemaline myopathy 11
Definition 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.
https://www.ncbi.nlm.nih.gov/pubmed/28017374
Xrefs

MIM:617336

Synonyms

NEM11 [EXACT]

nemaline myopathy 11, autosomal recessive [EXACT]

Parent Relationships

is_a autosomal recessive disease

is_a nemaline myopathy

Subclass Logical Relationships

has symptom some progressive weakness

has material basis in some autosomal recessive inheritance

has symptom some muscle weakness

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