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congenital myopathy 5
Summary
- Synonym
-
- Salih myopathy
- congenital myopathy-5 with cardiomyopathy
- 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.
- Super Class
- autosomal recessive disease congenital myopathy
External Links
- Disease Ontology
- DOID:0081341
- Mondo Disease Ontology
- ORDO
- OMIM
