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Multiminicore myopathy

MedGen UID:
75731
Concept ID:
C0270962
Disease or Syndrome
Synonym: Multiminicore Disease
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.
 
Gene (location): SELENON (1p36.11)
Related gene: 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

Recent clinical studies

Etiology

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

Diagnosis

Klaska C, Gonik B
Obstet Gynecol 2014 Feb;123(2 Pt 2 Suppl 2):438-440. doi: 10.1097/AOG.0000000000000003. PMID: 24413229

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