CACNA1S Arg528Cys mutation in a young Chinese man with thyrotoxic hypokalemic periodic paralysis

CACNA1S Arg528Cys mutation in a young Chinese man with thyrotoxic hypokalemic periodic paralysis

It has long been believed that the patients with thyrotoxic hypokalemic periodic paralysis (THPP) may harbor genetic mutations commonly found in familial hypokalemic periodic paralysis. Despite extensive testing, such a mutation has escaped detection until now. It has long been believed that the pat...

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Veröffentlicht in:Clinical case reports 2020-10, Vol.8 (10), p.1962-1964
Hauptverfasser: Rezkalla, Nader, Imam, Kamran, Marti, Miriam, Ip, Karen, Mashhadian, Ardavan, Liu, Antonio
Format: Artikel
Sprache:eng
Schlagworte:
Case Report
Case Reports
endocrinology
genetics
Hyperthyroidism
Laboratories
metabolic disorders
Mutation
neurology
Patients
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Zusammenfassung:It has long been believed that the patients with thyrotoxic hypokalemic periodic paralysis (THPP) may harbor genetic mutations commonly found in familial hypokalemic periodic paralysis. Despite extensive testing, such a mutation has escaped detection until now. It has long been believed that the patients with thyrotoxic hypokalemic periodic paralysis (THPP) may harbor genetic mutations commonly found in familial hypokalemic periodic paralysis. Despite extensive testing, such a mutation has escaped detection until now.
ISSN:2050-0904
2050-0904
DOI:10.1002/ccr3.3054