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Autosomal Emery-Dreifuss Muscular Dystrophy

MedGen UID:
1708803
•Concept ID:
C5392234
•
Disease or Syndrome
Synonym: Autosomal Emery Dreifuss Muscular Dystrophy

Definition

Emery-Dreifuss muscular dystrophy associated with mutations on LAMINS (LMNA gene). [from MeSH]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAutosomal Emery-Dreifuss Muscular Dystrophy

Recent clinical studies

Etiology

Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report.
Iskandar K, Sunartini, Astari FN, Gumilang RA, Ilma N, Shartyanie NP, Adistyawan G, Tan G, Gunadi, Lai PS
BMC Pediatr 2022 Oct 17;22(1):601. doi: 10.1186/s12887-022-03662-y. PMID: 36253810Free PMC Article
Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders.
Malfatti E, Olivé M, Taratuto AL, Richard P, Brochier G, Bitoun M, Gueneau L, Laforêt P, Stojkovic T, Maisonobe T, Monges S, Lubieniecki F, Vasquez G, Streichenberger N, Lacène E, Saccoliti M, Prudhon B, Alexianu M, Figarella-Branger D, Schessl J, Bonnemann C, Eymard B, Fardeau M, Bonne G, Romero NB
J Neuropathol Exp Neurol 2013 Sep;72(9):833-45. doi: 10.1097/NEN.0b013e3182a23506. PMID: 23965743Free PMC Article

Diagnosis

Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report.
Iskandar K, Sunartini, Astari FN, Gumilang RA, Ilma N, Shartyanie NP, Adistyawan G, Tan G, Gunadi, Lai PS
BMC Pediatr 2022 Oct 17;22(1):601. doi: 10.1186/s12887-022-03662-y. PMID: 36253810Free PMC Article

Prognosis

Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report.
Iskandar K, Sunartini, Astari FN, Gumilang RA, Ilma N, Shartyanie NP, Adistyawan G, Tan G, Gunadi, Lai PS
BMC Pediatr 2022 Oct 17;22(1):601. doi: 10.1186/s12887-022-03662-y. PMID: 36253810Free PMC Article

Clinical prediction guides

Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders.
Malfatti E, Olivé M, Taratuto AL, Richard P, Brochier G, Bitoun M, Gueneau L, Laforêt P, Stojkovic T, Maisonobe T, Monges S, Lubieniecki F, Vasquez G, Streichenberger N, Lacène E, Saccoliti M, Prudhon B, Alexianu M, Figarella-Branger D, Schessl J, Bonnemann C, Eymard B, Fardeau M, Bonne G, Romero NB
J Neuropathol Exp Neurol 2013 Sep;72(9):833-45. doi: 10.1097/NEN.0b013e3182a23506. PMID: 23965743Free PMC Article
Lamin A N-terminal phosphorylation is associated with myoblast activation: impairment in Emery-Dreifuss muscular dystrophy.
Cenni V, Sabatelli P, Mattioli E, Marmiroli S, Capanni C, Ognibene A, Squarzoni S, Maraldi NM, Bonne G, Columbaro M, Merlini L, Lattanzi G
J Med Genet 2005 Mar;42(3):214-20. doi: 10.1136/jmg.2004.026112. PMID: 15744034Free PMC Article

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