Please use this identifier to cite or link to this item: http://hdl.handle.net/1959.13/930597

OpenURL Link
Title
Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion
Author/Creator
Clarke, Nigel F.;  Waddell, Leigh B.;  Guglieri, Michela;  King, Mary D.;  Farrell, Michael A.;  Marty, Isabelle;  Lunardi, Joel;  Monnier, Nicole;  North, Kathryn N.;  Cooper, Sandra T.;  Perry, Margaret;  Smith, Robert L. L.;  Kornberg, Andrew J.;  Muntoni, Francesco;  Lillis, Suzanne;  Straub, Volker;  Bushby, Kate
Institution
The University of Newcastle. Faculty of Health, School of Medicine and Public Health
Description
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.
Relation
Human Mutation Vol. 31, Issue 7, p. E1544-E1550
Publisher Link
http://dx.doi.org/10.1002/humu.21278
Date
2010
Publisher
John Wiley & Sons
Keyword(s)
RYR1;  congenital myopathy;  congenital fiber type disproportion;  multi minicore disease
Resource Type
journal article
Identifier
http://hdl.handle.net/1959.13/930597
Identifier
ISSN:1059-7794
Reviewed
Reviewed
9 Visitors 13 Hits 0 Downloads
Save/E-mail Citation
Citation Format
E-mail Address
Subject
"Human Mutation"
 
OR