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

@article{Clarke2010RecessiveMI,
  title={Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion.},
  author={Nigel F. Clarke and Leigh B. Waddell and Sandra T Cooper and Margaret Perry and Robert L. Smith and Andrew J. Kornberg and Francesco Muntoni and Suzanne Lillis and Volker Straub and Katharine M. D. Bushby and Michela Guglieri and Mary Dolores King and Michael A. Farrell and Isabelle Marty and Joel Lunardi and Nicole Monnier and Kathryn N North},
  journal={Human mutation},
  year={2010},
  volume={31 7},
  pages={E1544-50}
}
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… CONTINUE READING