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

✍ Scribed by Nigel F. Clarke; Leigh B. Waddell; Sandra T. Cooper; Margaret Perry; Robert L.L. Smith; Andrew J. Kornberg; Francesco Muntoni; Suzanne Lillis; Volker Straub; Kate Bushby; Michela Guglieri; Mary D. King; Michael A. Farrell; Isabelle Marty; Joel Lunardi; Nicole Monnier; Kathryn N. North

Publisher: John Wiley and Sons
Year: 2010
Tongue: English
Weight: 531 KB
Volume: 31
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.21278

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✦ Synopsis

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.

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