Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age-Reference-Cited by-同舟云学术

Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age

Published:2013-01-09 Issue:8 Volume:21 Page:855-863
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Mercier Sandra,Toutain Annick,Toussaint Aurélie,Raynaud Martine,de Barace Claire,Marcorelles Pascale,Pasquier Laurent,Blayau Martine,Espil Caroline,Parent Philippe,Journel Hubert,Lazaro Leila,Andoni Urtizberea Jon,Moerman Alexandre,Faivre Laurence,Eymard Bruno,Maincent Kim,Gherardi Romain,Chaigne Denys,Ben Yaou Rabah,Leturcq France,Chelly Jamel,Desguerre Isabelle

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2012269.pdf

Reference44 articles.

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3. Pegoraro E, Hoffman EP, Piva L et al: SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy. Neurology 2011; 76: 219–226.

4. Hoogerwaard EM, van der Wouw PA, Wilde AA et al: Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy. Neuromuscul Disord 1999; 9: 347–351.

5. Kamakura K, Kawai M, Arahata K, Koizumi H, Watanabe K, Sugita H : A manifesting carrier of Duchenne muscular dystrophy with severe myocardial symptoms. J Neurol 1990; 237: 483–485.

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