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The clinical and pathological characteristics of a hypokalemic periodic paralysis family with muscle atrophy due to SCN4A R672G mutation and review of literatures

Objective To report a family of hypokalaemic periodic paralysis (HypoPP) with muscle atrophy due to SCN4A gene R672G mutation. The clinical, pathological and MRI characteristics of HypoPP were summarized combining literatures review. Methods and Results The proband was a 27⁃year⁃old male patient who...

Ausführliche Beschreibung

Gespeichert in:
Hauptverfasser: XIA Yu, SHA Qian⁃qian, ZHU Wen⁃hua, QIAO Kai, DU Ai⁃lian
Format: Artigo
Sprache:Inglês
Veröffentlicht: Tianjin Huanhu Hospital 2022-08-01
Schriftenreihe:Chinese Journal of Contemporary Neurology and Neurosurgery
Schlagworte:
hypokalemic periodic paralysis (not in mesh)
muscular atrophy
sodium channels
genes
mutation
pedigree
Online-Zugang:http://www.cjcnn.org/index.php/cjcnn/article/view/2552
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