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Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion

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.

Publication metadata

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.


DOI: 10.1002/humu.21278

PubMed id: 20583297


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Funder referenceFunder name
MDA of New South Wales
National Commissioning Group
206529NHMRC, Australia
403941NHMRC, Australia