Malignant hyperthermia and central core disease: Analysis of two families with heterogeneous clinical expression-Reference-Cited by-同舟云学术

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Malignant hyperthermia and central core disease: Analysis of two families with heterogeneous clinical expression

Published:1993-01 Issue:5-6 Volume:3 Page:547-551
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Romero N.B.,Nivoche Y.,Lunardi J.,Bruneau B.,Cheval M.A.,Hillaire D.,Fardeau M.

Publisher

Elsevier BV

Subject

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

Reference12 articles.

1. A new congenital non-progressive myopathy;Shy;Brain,1956

2. Congenital myopathies;Fardeau,1992

3. Central core disease and malignant hyperpyrexia;Denborough;Br Med J,1973

4. Myopathie à axe central (central core disease) associée à une sensibilité à l'hyperthermie maligne;Krivosic-Horber;Presse Méd,1989

5. Assignment of the gene for central core disease to chromosome 19;Haan;Hum Genet,1990

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3. de novo RYR1 heterozygous mutation (I4898T) causing lethal core–rod myopathy in twins;European Journal of Medical Genetics;2011-01

4. A Double Mutation of the Ryanodine Receptor Type 1 Gene in a Malignant Hyperthermia Family with Multiminicore Myopathy;Journal of Clinical Neurology;2008

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