centronuclear myopathy 5

Term ID

DOID:0111222

Synonyms

• CNM5

Definition

An autosomal recessive centronuclear myopathy characterized by severe neonatal hypotonia, respiratory insufficiency, and difficulty feeding that has_material_basis_in homozygous or compound heterozygous mutation in SPEG on 2q35. https://www.ncbi.nlm.nih.gov/pubmed/25087613

References

• OMIM:615959

Ontology

Human Disease   ( DOID:0111222 )