Article
Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion.
Human mutation - 1 Jul 2010
Clarke Nigel F, Waddell Leigh B, Cooper Sandra T, Perry Margaret, Smith Robert L L, Kornberg Andrew J, Muntoni Francesco, Lillis Suzanne, Straub Volker, Bushby Kate, Guglieri Michela, King Mary D, Farrell Michael A, Marty Isabelle, Lunardi Joel, Monnier Nicole, North Kathryn N
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.