108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13–15 September 2002, Naarden, The Netherlands-Reference-Cited by-同舟云学术

108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13–15 September 2002, Naarden, The Netherlands

Published:2003-08 Issue:6 Volume:13 Page:508-515
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Bonne Gisèle,Yaou Rabah Ben,Béroud Christophe,Boriani Giuseppe,Brown Sue,de Visser Marianne,Duboc Denis,Ellis Juliet,Hausmanowa-Petrusewicz Irena,Lattanzi Giovanna,Merlini Luciano,Morris Glenn,Muntoni Francesco,Opolski Grzegorz,Pinto Yigal M,Sangiuolo Federica,Toniolo Daniela,Trembath Richard,van Berlo Jop H,van der Kooi Anneke J,Wehnert Manfred

Publisher

Elsevier BV

Subject

Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health

Reference14 articles.

1. Homozygous Defects in LMNA. Encoding Lamin A/C Nuclear-Envelope Proteins, Cause Autosomal Recessive Axonal Neuropathy in Human (Charcot-Marie-Tooth Disorder Type 2) and Mouse;De Sandre-Giovannoli;Am J Hum Genet,2002

2. New syndrome manifested by mandibular hypoplasia, acroosteolysis, stiff joints and cutaneous atrophy (mandibuloacral dysplasia) in two unrelated boys;Young;Birth Defects Orig Artic Ser,1971

3. Mandibuloacral dysplasia is caused by a mutation in LMNA encoding lamins A/C;Novelli;Am J Hum Genet,2002

4. A R644C mutation within lamin A extends the mutations causing dilated cardiomyopathy;Genschel;Hum Mutat,2001

5. UMD (Universal mutation database): a generic software to build and analyze locus-specific databases;Beroud;Hum Mutat,2000

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