nemaline myopathy 10

Term ID

DOID:0110931

Synonyms

• congenital myopathy 10
• NEM10

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

References

• OMIM:616165

Ontology

Human Disease   ( DOID:0110931 )