KEGG   DISEASE: Emery-Dreifuss muscular dystrophy
Entry
H00563                      Disease                                
Name
Emery-Dreifuss muscular dystrophy
Description
Emery-Dreifuss muscular dystrophy (EDMD) is characterized by the clinical triad of joint contractures that begin in early childhood, slowly progressive muscle weakness and wasting initially in a humeroperoneal distribution that later extends to the scapular and pelvic girdle muscles, and cardiac involvement that usually occurs after the second decade of life. So far, five genes, EMD (emerin), LMNA, SYNE (nesprin)1, SYNE2 and FHL1, have been associated to EDMD phenotypes, that can be inherited following an X-linked, autosomal dominant or autosomal recessive pattern of inheritance. Most of genes known to be associated with EDMD are critical for nuclear envelope integrity.
Category
Nervous system disease; Musculoskeletal disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Diseases of neuromuscular junction or muscle
   Primary disorders of muscles
    8C70  Muscular dystrophy
     H00563  Emery-Dreifuss muscular dystrophy
Gene
(EDMD1) EMD [HSA:2010] [KO:K12569]
(EDMD2 EDMD3) LMNA [HSA:4000] [KO:K12641]
(EDMD4) SYNE1 [HSA:23345] [KO:K19326]
(EDMD5) SYNE2 [HSA:23224] [KO:K19346]
(EDMD6) FHL1 [HSA:2273] [KO:K14365]
(EDMD7) TMEM43 [HSA:79188]
Other DBs
ICD-11: 8C70.2
ICD-10: G71.0
MeSH: C535734
OMIM: 310300 181350 612998 612999 300696 614302
Reference
  Authors
Bonne G, Leturcq F, Ben Yaou R
  Title
Emery-Dreifuss Muscular Dystrophy
  Journal
GeneReviews (1993)
Reference
  Authors
Emery AE
  Title
The muscular dystrophies.
  Journal
Lancet 359:687-95 (2002)
DOI:10.1016/S0140-6736(02)07815-7
Reference
PMID:7894480 (EMD)
  Authors
Bione S, Maestrini E, Rivella S, Mancini M, Regis S, Romeo G, Toniolo D
  Title
Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy.
  Journal
Nat Genet 8:323-7 (1994)
DOI:10.1038/ng1294-323
Reference
PMID:10739764 (LMNA)
  Authors
Raffaele Di Barletta M, Ricci E, Galluzzi G, Tonali P, Mora M, Morandi L, Romorini A, Voit T, Orstavik KH, Merlini L, Trevisan C, Biancalana V, Housmanowa-Petrusewicz I, Bione S, Ricotti R, Schwartz K, Bonne G, Toniolo D
  Title
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.
  Journal
Am J Hum Genet 66:1407-12 (2000)
DOI:10.1086/302869
Reference
PMID:17761684 (SYNE1 SYNE2)
  Authors
Zhang Q, Bethmann C, Worth NF, Davies JD, Wasner C, Feuer A, Ragnauth CD, Yi Q, Mellad JA, Warren DT, Wheeler MA, Ellis JA, Skepper JN, Vorgerd M, Schlotter-Weigel B, Weissberg PL, Roberts RG, Wehnert M, Shanahan CM
  Title
Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity.
  Journal
Hum Mol Genet 16:2816-33 (2007)
DOI:10.1093/hmg/ddm238
Reference
PMID:19716112 (FHL1)
  Authors
Gueneau L, Bertrand AT, Jais JP, Salih MA, Stojkovic T, Wehnert M, Hoeltzenbein M, Spuler S, Saitoh S, Verschueren A, Tranchant C, Beuvin M, Lacene E, Romero NB, Heath S, Zelenika D, Voit T, Eymard B, Ben Yaou R, Bonne G
  Title
Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy.
  Journal
Am J Hum Genet 85:338-53 (2009)
DOI:10.1016/j.ajhg.2009.07.015
Reference
PMID:21391237 (TMEM43)
  Authors
Liang WC, Mitsuhashi H, Keduka E, Nonaka I, Noguchi S, Nishino I, Hayashi YK
  Title
TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy.
  Journal
Ann Neurol 69:1005-13 (2011)
DOI:10.1002/ana.22338

» Japanese version

DBGET integrated database retrieval system