nemaline myopathy 11

Term ID

DOID:0110933

Synonyms

• NEM11
• nemaline myopathy 11, autosomal recessive

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

References

• MIM:617336

Ontology

Human Disease   ( DOID:0110933 )