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Lookup NU author(s): Professor Volker StraubORCiD, Emerita Professor Katherine Bushby, Professor Michela GuglieriORCiD
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The main histological abnormality in congenital fiber type disproportion (CFTD) is hypotrophy of type 1 (slow twitch) fibers compared to type 2 (fast twitch) fibers. To investigate whether mutations in RYR1 are a cause of CFTD we sequenced RYR1 in seven CFTD families in whom the other known causes of CFTD had been excluded. We identified compound heterozygous changes in the RYR1 gene in four families (five patients), consistent with autosomal recessive inheritance. Three out of five patients had ophthalmoplegia, which may be the most specific clinical indication of mutations in RYR1. Type 1 fibers were at least 50% smaller, on average, than type 2 fibers in all biopsies. Recessive mutations in RYR1 are a relatively common cause of CFTD and can be associated with extreme fiber size disproportion. ©2010 Wiley-Liss, Inc.
Author(s): Clarke N, Waddell L, Cooper S, Perry M, Smith R, Kornberg A, Muntoni F, Lillis S, Straub V, Bushby K, Guglieri M, King M, Farrell M, Marty I, Lunardi J, Monnier N, North K
Publication type: Article
Publication status: Published
Journal: Human Mutation
Year: 2010
Volume: 31
Issue: 7
Pages: E1544-E1550
Print publication date: 01/07/2010
ISSN (print): 1059-7794
ISSN (electronic): 1098-1004
Publisher: John Wiley & Sons, Inc.
URL: http://dx.doi.org/10.1002/humu.21278
DOI: 10.1002/humu.21278
PubMed id: 20583297
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