Journal
HUMAN MUTATION
Volume 31, Issue 7, Pages E1544-E1550Publisher
WILEY
DOI: 10.1002/humu.21278
Keywords
RYR1; congenital myopathy; congenital fiber type disproportion; multi-minicore disease
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Funding
- NHMRC, Australia [206529, 403941]
- MDA of New South Wales
- MDA USA
- National Commissioning Group
- Medical Research Council [G0601943] Funding Source: researchfish
- MRC [G0601943] Funding Source: UKRI
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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. (C) 2010 Wiley-Liss, Inc.
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