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Autosomal recessive Emery-Dreifuss muscular dystrophy

MedGen UID:
259643
•Concept ID:
C1450051
•
Disease or Syndrome
Synonyms: Autosomal Recessive Emery Dreifuss Muscular Dystrophy; Autosomal Recessive Emery-Dreifuss Muscular Dystrophy; Emery Dreifuss Muscular Dystrophy, Autosomal Recessive; Emery-Dreifuss Muscular Dystrophy, Autosomal Recessive; Muscular Dystrophy, Emery-Dreifuss, Autosomal Recessive
SNOMED CT: Autosomal recessive Emery-Dreifuss muscular dystrophy (1156848009); EDMD3 - autosomal recessive Emery-Dreifuss muscular dystrophy (1156848009)
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)
 
Orphanet: ORPHA98855

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAutosomal recessive Emery-Dreifuss muscular dystrophy
Follow this link to review classifications for Autosomal recessive Emery-Dreifuss muscular dystrophy in Orphanet.

Professional guidelines

PubMed

2022 HRS expert consensus statement on evaluation and management of arrhythmic risk in neuromuscular disorders.
Groh WJ, Bhakta D, Tomaselli GF, Aleong RG, Teixeira RA, Amato A, Asirvatham SJ, Cha YM, Corrado D, Duboc D, Goldberger ZD, Horie M, Hornyak JE, Jefferies JL, Kääb S, Kalman JM, Kertesz NJ, Lakdawala NK, Lambiase PD, Lubitz SA, McMillan HJ, McNally EM, Milone M, Namboodiri N, Nazarian S, Patton KK, Russo V, Sacher F, Santangeli P, Shen WK, Sobral Filho DC, Stambler BS, Stöllberger C, Wahbi K, Wehrens XHT, Weiner MM, Wheeler MT, Zeppenfeld K
Heart Rhythm 2022 Oct;19(10):e61-e120. Epub 2022 Apr 29 doi: 10.1016/j.hrthm.2022.04.022. PMID: 35500790
Cardiac Involvement in Emery-Dreifuss Muscular Dystrophy and Related Management Strategies.
Wang S, Peng D
Int Heart J 2019 Jan 25;60(1):12-18. Epub 2018 Dec 5 doi: 10.1536/ihj.17-604. PMID: 30518714
Prenatal diagnosis of congenital myopathies and muscular dystrophies.
Massalska D, Zimowski JG, Bijok J, Kucińska-Chahwan A, Łusakowska A, Jakiel G, Roszkowski T
Clin Genet 2016 Sep;90(3):199-210. Epub 2016 Jun 2 doi: 10.1111/cge.12801. PMID: 27197572

Recent clinical studies

Etiology

Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy.
Wiltshire KM, Hegele RA, Innes AM, Brownell AK
Neuromuscul Disord 2013 Mar;23(3):265-8. Epub 2013 Jan 11 doi: 10.1016/j.nmd.2012.11.011. PMID: 23313286

Diagnosis

Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing.
Jimenez-Escrig A, Gobernado I, Garcia-Villanueva M, Sanchez-Herranz A
Muscle Nerve 2012 Apr;45(4):605-10. doi: 10.1002/mus.22324. PMID: 22431096

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