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A Met-to-Val mutation in the skeletal muscle Na+ channel α-subunit in hyperkalaemic periodic paralysis

✍ Scribed by Rojas, Cecilia V.; Wang, Jianzhou; Schwartz, Lisa S.; Hoffman, Eric P.; Powell, Berkley R.; Brown Jr, Robert H.


Book ID
109779063
Publisher
Nature Publishing Group
Year
1991
Tongue
English
Weight
548 KB
Volume
354
Category
Article
ISSN
0028-0836

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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