nemaline myopathy 9

Term ID

DOID:0110929

Synonyms

• NEM9

Definition

A nemaline myopathy characterized by onset in early infancy of muscle weakness with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL41 gene on chromosome 2q31. https://www.ncbi.nlm.nih.gov/pubmed/24268659

References

• OMIM:615731

Ontology

Human Disease   ( DOID:0110929 )