ZFIN Human Disease: congenital myopathy 1A

OBO ID: DOID:3529

Term Name:	congenital myopathy 1A		Search Ontology:
Synonyms:	central core disease central core myopathy
Definition:	A congenital myopathy that is characterized by muscle weakness primarily affecting the proximal muscles of the lower limbs beginning in infancy or early childhood, although later onset of symptoms has been reported and that has_material_basis_in heterozygous mutation in the ryanodine receptor-1 gene (RYR1) on chromosome 19q13. Heterozygous mutation in the RYR1 gene also causes susceptibility to malignant hyperthermia-1 (MHS1), patients with CMYP1A are at risk for MHS. Biallelic mutations in the RYR1 gene cause autosomal recessive CMYP1B, which shows overlapping features, but is typically more severe. (3)
References:	GARD:6014 ICD10CM:G71.29 MESH:D020512 NCI:C83010 OMIM:117000 ORDO:597 SNOMEDCT_US_2023_03_01:43152001 UMLS_CUI:C0751951
Ontology:	Human Disease ( DOID:3529 )

Relationships

is a type of:	autosomal dominant disease autosomal recessive disease congenital myopathy autosomal dominant disease autosomal recessive disease congenital myopathy Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
RYR1	ryr1b ryr1a	Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia	117000

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS (1)