de novo RYR1 heterozygous mutation (I4898T) causing lethal core–rod myopathy in twins-Reference-Cited by-同舟云学术

de novo RYR1 heterozygous mutation (I4898T) causing lethal core–rod myopathy in twins

Published:2011-01 Issue:1 Volume:54 Page:29-33
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Hernandez-Lain Aurelio,Husson Isabelle,Monnier Nicole,Farnoux Caroline,Brochier Guy,Lacène Emmanuelle,Beuvin Maud,Mait Viou ,Manéré Linda,Claeys Kristl G.,Fardeau Michel,Lunardi Joël,Voit Thomas,Romero Norma Beatriz

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference28 articles.

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3. Phenotypic spectrum of core–rod myopathy caused by dominant or recessive RYR1 mutations;Claeys;Neuromuscul. Disord.,2009

4. Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene;Davis;Neuromuscul. Disord.,2003

5. CACNA1A mutation linking hemiplegic migraine and alternating hemiplegia of childhood;de Vries;Cephalalgia,2008

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