Multiminicore myopathy

MedGen UID:: 75731
•Concept ID:: C0270962
•: Disease or Syndrome

Synonyms:	Minicore disease; MmD; Multi-core congenital myopathy; Multi-core disease; Multi-minicore disease; Multicore disease; multicore disease; multicore myopathy; Multiminicore disease; multiminicore disease; multiminicore myopathy
SNOMED CT:	Minicore disease (55133004); Multicore disease (55133004); Multiminicore disease (55133004); Multi-minicore disease (55133004); Multi-core congenital myopathy (55133004); Multi-core disease (55133004)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal recessive inheritance (Orphanet) Autosomal dominant inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	SELENON (1p36.11)
Related gene: Gene(s) associated with related conditions. For conditions in a hierarchy, the parent condition will list the genes associated with the children conditions.	RYR1

Monarch Initiative:	MONDO:0018948
Orphanet:	ORPHA598

Definition

A rare hereditary neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy. [from ORDO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCongenital muscular dystrophy

Congenital muscular dystrophy
- Multiminicore myopathy

Professional guidelines

Recent clinical studies

Etiology

Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin.

Tein I, Elpeleg O, Ben-Zeev B, Korman SH, Lossos A, Lev D, Lerman-Sagie T, Leshinsky-Silver E, Vockley J, Berry GT, Lamhonwah AM, Matern D, Roe CR, Gregersen N
Mol Genet Metab 2008 Feb;93(2):179-89. Epub 2007 Dec 3 doi: 10.1016/j.ymgme.2007.09.021. PMID: 18054510

Multiminicore Disease – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.

Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, Beggs AH, Agrawal PB
1993 PMID: 20301467

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