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congenital myopathy 2C

Definition: A congenital myopathy that is characterized by severe congenital weakness usually resulting in death from respiratory failure in the first year or so of life and that has_material_basis_in heterozygous mutation in the ACTA1 gene on chromosome 1q42. Heterozygous mutation in the ACTA1 gene can also cause autosomal dominant typical congenital myopathy-2A (CMYP2A). Biallelic mutation in the ACTA1 gene causes autosomal recessive severe infantile congenital myopathy-2B (CMYP2B).
Super Class: autosomal dominant disease congenital myopathy

Related Genes

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
58	ACTA1	actin alpha 1, skeletal muscle	Alliance of Genome Resources

Related Glycoprotein

Displaying 1 entry
UniProt ID	Protein Name	Source
P68133	Actin, alpha skeletal muscle	Alliance of Genome Resources

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HPO ID	HPO Term
HP:0000006	Autosomal dominant inheritance
HP:0000218	High palate
HP:0100309	Subdural hemorrhage
HP:0000276	Long face
HP:0012084	Abnormality of skeletal muscle fiber size
HP:0000275	Narrow face
HP:0100297	Increased endomysial connective tissue
HP:0001270	Motor delay
HP:0009473	Joint contracture of the hand
HP:0001252	Hypotonia