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Human Disease

congenital myopathy 18

Term ID
DOID:0081350
Synonyms
Definition
A congenital myopathy that is characterized by the onset of symptoms of muscle weakness in early childhood, including in utero and infancy and that has_material_basis_in compound heterozygous or heterozygous mutation in the CACNA1S gene on chromosome 1q32. (2)
References
Ontology
Human Disease   ( DOID:0081350 )
Relationships
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Genes Involved
Zebrafish Models