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MYH7-related late-onset scapuloperoneal muscular dystrophy

MedGen UID:
442146
Concept ID:
CN074265
Disease or Syndrome
Synonyms: MYH7-related late-onset scapuloperoneal syndrome; MYH7-related late-onset SPMD
Modes of inheritance:
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.
 
Orphanet: ORPHA437572

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMYH7-related late-onset scapuloperoneal muscular dystrophy

Recent clinical studies

Diagnosis

Atemin S, Todorov T, Maver A, Chamova T, Georgieva B, Tincheva S, Pacheva I, Ivanov I, Taneva A, Zlatareva D, Tournev I, Guergueltcheva V, Gospodinova M, Chochkova L, Peterlin B, Mitev V, Todorova A
Neuromuscul Disord 2021 Jul;31(7):633-641. Epub 2021 Apr 26 doi: 10.1016/j.nmd.2021.04.004. PMID: 34053846

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