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 o
RYR1 mutations are a common cause of congenital myopathies with central nuclei
✍ Scribed by J.M. Wilmshurst; S. Lillis; H. Zhou; K. Pillay; H. Henderson; W. Kress; C.R. Müller; A. Ndondo; V. Cloke; T. Cullup; E. Bertini; C. Boennemann; V. Straub; R. Quinlivan; J.J. Dowling; S. Al- Sarraj; S. Treves; S. Abbs; A.Y. Manzur; C.A. Sewry; F. Muntoni; H. Jungbluth
- Publisher
- John Wiley and Sons
- Year
- 2010
- Tongue
- English
- Weight
- 500 KB
- Volume
- 68
- Category
- Article
- ISSN
- 0364-5134
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