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Human Disease

Compton-North congenital myopathy

Term ID
DOID:0080101
Synonyms
  • congenital myopathy 12
Definition
A congenital myopathy that has_material_basis_in homozygous mutation in the CNTN1 gene on chromosome 12q12 and that is characterized antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. https://pubmed.ncbi.nlm.nih.gov/19026398/
References
Ontology
Human Disease   ( DOID:0080101 )
Relationships
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Genes Involved
Zebrafish Models