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Emery-Dreifuss muscular dystrophy.
Eur J Hum Genet. 2002 Mar; 10(3):157-61.EJ

Abstract

Emery-Dreifuss muscular dystrophy (EDMD) is characterised by early contractures, slowly progressive muscle wasting and weakness with a distinctive humero-peroneal distribution and cardiac conduction defects leading to dilated cardiomyopathy. The genes known to be responsible for EDMD encode proteins associated with the nuclear envelope: the emerin and the lamins A and C.

Authors+Show Affiliations

Inserm U523, Institut de Myologie, GH Pitié-Salpétrière, Paris, France.No affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

11973618

Citation

Helbling-Leclerc, Anne, et al. "Emery-Dreifuss Muscular Dystrophy." European Journal of Human Genetics : EJHG, vol. 10, no. 3, 2002, pp. 157-61.
Helbling-Leclerc A, Bonne G, Schwartz K. Emery-Dreifuss muscular dystrophy. Eur J Hum Genet. 2002;10(3):157-61.
Helbling-Leclerc, A., Bonne, G., & Schwartz, K. (2002). Emery-Dreifuss muscular dystrophy. European Journal of Human Genetics : EJHG, 10(3), 157-61.
Helbling-Leclerc A, Bonne G, Schwartz K. Emery-Dreifuss Muscular Dystrophy. Eur J Hum Genet. 2002;10(3):157-61. PubMed PMID: 11973618.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Emery-Dreifuss muscular dystrophy. AU - Helbling-Leclerc,Anne, AU - Bonne,Gisèle, AU - Schwartz,Ketty, PY - 2001/07/12/received PY - 2001/09/05/revised PY - 2001/09/07/accepted PY - 2002/4/26/pubmed PY - 2002/8/13/medline PY - 2002/4/26/entrez SP - 157 EP - 61 JF - European journal of human genetics : EJHG JO - Eur J Hum Genet VL - 10 IS - 3 N2 - Emery-Dreifuss muscular dystrophy (EDMD) is characterised by early contractures, slowly progressive muscle wasting and weakness with a distinctive humero-peroneal distribution and cardiac conduction defects leading to dilated cardiomyopathy. The genes known to be responsible for EDMD encode proteins associated with the nuclear envelope: the emerin and the lamins A and C. SN - 1018-4813 UR - https://www.unboundmedicine.com/medline/citation/11973618/Emery_Dreifuss_muscular_dystrophy_ L2 - https://biocyc.org/gene?orgid=HUMAN&id=HS08535 DB - PRIME DP - Unbound Medicine ER -