congenital myopathy 5

Term ID

DOID:0081341

Synonyms

• congenital myopathy-5 with cardiomyopathy
• Salih myopathy

Definition

A congenital myopathy that is characterized by the onset of muscle weakness in infancy manifest as neonatal hypotonia, delayed motor development, and often distal contractures and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding titin (TTN) on chromosome 2q31. https://pubmed.ncbi.nlm.nih.gov/24105469/

References

• MIM:611705
• ORDO:289377

Ontology

Human Disease   ( DOID:0081341 )