Version: 8.0.0
Date: Tue Jan 28 2025
congenital myopathy 5
DOID:0081341
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

congenital myopathy 5

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.
Synonyms
  • congenital myopathy-5 with cardiomyopathy
  • Salih myopathy
Cross References
Parent Terms
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None
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