P1.46 Genetic, clinical, and pathological features of congenital fiber type disproportion in Japan
โ Scribed by K. Tominaga; Y.K. Hayashi; K. Goto; N. Minami; S. Noguchi; I. Nonaka; T. Miki; I. Nishino
- Book ID
- 116794491
- Publisher
- Elsevier Science
- Year
- 2010
- Tongue
- English
- Weight
- 39 KB
- Volume
- 20
- Category
- Article
- ISSN
- 0960-8966
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๐ SIMILAR VOLUMES
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
Congenital fiber type disproportion (CFTD) is a rare congenital myopathy characterized by hypotonia and generalized muscle weakness. Pathologic diagnosis of CFTD is based on the presence of type 1 fiber hypotrophy of at least 12% in the absence of other notable pathological findings. Mutations of th