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Desmin-related myopathy with Mallory body-like inclusions

MedGen UID:
898925
•Concept ID:
C4275073
•
Disease or Syndrome
Synonyms: Desmin related myopathy with Mallory body-like inclusions; desmin-related myopathy with Mallory body-like inclusions; Early onset desmin related myopathy; Early-onset desmin-related myopathy; early-onset desmin-related myopathy
SNOMED CT: Desmin related myopathy with Mallory body-like inclusions (715646003); Early onset desmin related myopathy (715646003)
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 recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0019398
Orphanet: ORPHA84132

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDesmin-related myopathy with Mallory body-like inclusions

Recent clinical studies

Prognosis

The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy.
Schara U, Kress W, Bönnemann CG, Breitbach-Faller N, Korenke CG, Schreiber G, Stoetter M, Ferreiro A, von der Hagen M
Eur J Paediatr Neurol 2008 May;12(3):224-30. Epub 2007 Oct 22 doi: 10.1016/j.ejpn.2007.08.011. PMID: 17951086

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