## Abstract ## Objective Mutations in __ACTA1__ have been associated with a variety of changes in muscle histology that likely result from fundamental differences in the way that __ACTA1__ mutations disrupt muscle function. Recently, we reported three patients with congenital fiber type disproport
A novel X-linked form of congenital fiber-type disproportion
โ Scribed by Nigel F. Clarke; Robert L. L. Smith; Melanie Bahlo; Kathryn N. North
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 224 KB
- Volume
- 58
- Category
- Article
- ISSN
- 0364-5134
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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
We identified a DAX1 missense mutation, a substitution of arginine for leucine at codon 466 (Leu466Arg), in an infant with X-linked congenital adrenal hypoplasia (AHC). A heterozygous substitution, Leu466Arg, was also identified in his mother and sister. Since leucine at position 466 is well conserv