Hyperkalemic periodic paralysis (HPP) is caused by mutations of the adult skeletal muscle sodium channel (SCN4A) gene on chromosome 17. Malignant hyperthermia (MH) is a genetically heterogeneous autosomal-dominant disorder occurring in association with various neuromuscular diseases or without other
β¦ LIBER β¦
Identification of a Thr-to-Met Mutation in the Skeletal Muscle Sodium Channel Gene in Hyperkalemic Periodic Paralysis of a Japanese Family
β Scribed by KIICHI ARAHATA; JIANZHOU WANG; W. GREGORY FEERO; HIROSHI HAYAKAWA; KOICHI HONDA; HIDEO SUGITA; ERIC P. HOFFMAN
- Book ID
- 119869169
- Publisher
- John Wiley and Sons
- Year
- 1993
- Tongue
- English
- Weight
- 135 KB
- Volume
- 707
- Category
- Article
- ISSN
- 0890-6564
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Linkage of malignant hyperthermia and hy
β
Moslehi, Roxana; Langlois, Sylvie; Yam, Irene; Friedman, J.M.
π
Article
π
1998
π
John Wiley and Sons
π
English
β 54 KB
π 1 views
A Met-to-Val mutation in the skeletal mu
β
Rojas, Cecilia V.; Wang, Jianzhou; Schwartz, Lisa S.; Hoffman, Eric P.; Powell,
π
Article
π
1991
π
Nature Publishing Group
π
English
β 548 KB
Paramyotonia congenita and hyperkalemic
β
P. Kelly; W.S. Yang; D. Costigan; M.A. Farrell; S. Murphy; O. Hardiman
π
Article
π
1997
π
Elsevier Science
π
English
β 732 KB
Severe phenotypes of paralysis periodica
β
Yu Feng; Xinping Ji; Xiaohong Sun; Hong Wang; Chaodong Zhang
π
Article
π
2011
π
Elsevier Science
π
English
β 386 KB
Identification of mutations in the CACNL
β
SillΓ©n, Anna; SΓΈrensen, Troels; Kantola, Ilkka; Friis, Mogens Laue; Gustavson, K
π
Article
π
1997
π
John Wiley and Sons
π
English
β 136 KB
π 3 views
Familial hypokalemic periodic paralysis (hypoPP) is an autosomal dominant disorder characterised by episodic attacks of paralysis of varying severity. Recently, linkage was found to markers in 1q31-32 and to the gene encoding the muscle DHP-sensitive calcium channel β£ 1-subunit (CACNL1A3). Subsequen
G.P.13.09 Identification of a point muta
β
G. Melli; L. Colleoni; P. Bernasconi; S. Romaggi; V. Tegazzin; R. Mantegazza; L.
π
Article
π
2008
π
Elsevier Science
π
English
β 61 KB