nemaline myopathy 7

Term ID

DOID:0110934

Synonyms

• NEM7
• nemaline myopathy 7, autosomal recessive

Definition

A nemaline myopathy characterized by very early onset of hypotonia and delayed motor development that has_material_basis_in homozygous mutation in the CFL2 gene on chromosome 14q13. (2)

References

• MESH:C565198
• OMIM:610687

Ontology

Human Disease   ( DOID:0110934 )