FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term congenital myopathy 1A ID (Ontology) DOID:3529 (Human Disease)
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.
Also Known As "autosomal dominant congenital myopathy 1A" ; "central core disease" ; "central core myopathy"
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 Genes
 congenital myopathy 1A       1
 for disease ribbon | congenital myopathy 1A       1
 model of | congenital myopathy 1A       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease___
 |__autosomal recessive disease__|
myopathy                         |
 |__congenital myopathy__________|
                                 congenital myopathy 1A  1 rec.
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Is a autosomal dominant disease
autosomal recessive disease
congenital myopathy
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Synonyms
  • "autosomal dominant congenital myopathy 1A" EXACT
    "central core disease" EXACT
    "central core myopathy" EXACT
Secondary IDs
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GARD:6014
ICD10CM:G71.29
MESH:D020512
MIM:117000
NCI:C83010
ORDO:597
SNOMEDCT_US_2023_03_01:43152001
UMLS_CUI:C0751951