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Metadata
ID DOID:0110931
Name nemaline myopathy 10
Definition A nemaline myopathy characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the LMOD3 gene on chromosome 3p14.
https://www.ncbi.nlm.nih.gov/pubmed/25250574
Xrefs

OMIM:616165

Synonyms

NEM10 [EXACT]

Parent Relationships

is_a nemaline myopathy

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