๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

A novel CLCN1 mutation: P480T in a Japanese family with Thomsen's myotonia congenita

โœ Scribed by R. Sasaki; N. Ito; M. Shimamura; T. Murakami; S. Kuzuhara; M. Uchino; E. Uyama


Publisher
John Wiley and Sons
Year
2001
Tongue
English
Weight
612 KB
Volume
24
Category
Article
ISSN
0148-639X

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


Novel SPG6 mutation p.A100T in a Japanes
โœ Satoshi Kaneko; Toshitaka Kawarai; Edwin Yip; Shabnam Salehi-Rad; Christine Sato ๐Ÿ“‚ Article ๐Ÿ“… 2006 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 98 KB

## Abstract We describe a Japanese family in which inheritance of a novel mutation p.A100T in __SPG6__ resulted in an autosomal dominant form of hereditary spastic paraplegia (ADHSP). Clinical investigation showed a pure form of HSP. Our study demonstrates further allelic heterogeneity of __SPG6__.

A novel missense mutation (G209R) in exo
โœ Naoya Sugiyama; Kyoko Suzuki; Takehiko Matsumura; Chiaki Kawanishi; Hideki Onish ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 17 KB ๐Ÿ‘ 2 views

Over fifty missense mutations in the presenilin-1 (PSEN1) gene have been reported in families with presenile familial Alzheimer's disease (FAD). We describe a novel missense mutation (G209R) within the predicted fourth transmembrane domain of the PSEN1 in a Japanese family with presenile FAD. The af

Identification of five new mutations and
โœ F Sangiuolo; A Botta; A Mesoraca; S Servidei; L Merlini; G Fratta; G Novelli; B ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 143 KB ๐Ÿ‘ 2 views

Autosomal dominant myotonia congenita or Thomsen's disease (OMIM\* 160800) and autosomal recessive myotonia congenita or Becker's (OMIM\* 255700) are rare nondystrophic disorders due to allelic mutations of the muscle chloride channel gene, CLCN1. We have analysed all 24 exons of the CLCN1 gene, in

A novel mutation (E358K) in the ฮฑ-galact
โœ Dr. Takashi Miyazaki; Mitsuharu Kajita; Sachiko Ohmori; Naoki Mizutani; Toshimit ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 177 KB

The enzyme deficiency causes the intralysosomal accumulation of glycosphingolipids. The affected hemizygotes manifest acroparethesis, angiokeratoma, hypohidrosis, corneal opacities, and progressive vascular diseases of the kidney, heart, and brain. The human a-Gal A cDNA (Bishop et al., 1986) and ge