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 [BR:br08402]
 Musculoskeletal diseases
  Muscular diseases
   H00563  Emery-Dreifuss muscular dystrophy
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]
Other DBs
ICD-11: 8C70.2
ICD-10: G71.0
MeSH: C535734
OMIM: 310300 181350 612998 612999 300696
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
  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
  Authors
Randles KN, Lam le T, Sewry CA, Puckelwartz M, Furling D, Wehnert M, McNally EM, Morris GE
  Title
Nesprins, but not sun proteins, switch isoforms at the nuclear envelope during muscle development.
  Journal
Dev Dyn 239:998-1009 (2010)
DOI:10.1002/dvdy.22229
Reference
  Authors
Puckelwartz M, McNally EM
  Title
Emery-Dreifuss muscular dystrophy.
  Journal
Handb Clin Neurol 101:155-66 (2011)
DOI:10.1016/B978-0-08-045031-5.00012-8
LinkDB

» Japanese version

DBGET integrated database retrieval system