Term Name:	congenital myopathy 5
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.
Ontology:	Human Disease [DOID:0081341]   ( DOID:0081341 )