Clinical and molecular analysis of chinese patients with thyrotoxic periodic paralysis

التفاصيل البيبلوغرافية
العنوان: Clinical and molecular analysis of chinese patients with thyrotoxic periodic paralysis
المؤلفون: Lie Chen, Franziska Joncourt, D. Lang, Sabina Gallati, Jean-Marc Burgunder, X.W. Ran
المصدر: European neurology. 49(4)
سنة النشر: 2002
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, China, DNA Mutational Analysis, Hypokalemic Periodic Paralysis, Familial periodic paralysis, Bioinformatics, Polymerase Chain Reaction, Genetic determinism, Hypokalemic periodic paralysis, Internal medicine, CACNA1S gene, medicine, Humans, Polymorphism, Single-Stranded Conformational, Polymorphism, Genetic, business.industry, Incidence, Thyrotoxic periodic paralysis, Periodic paralysis, Middle Aged, medicine.disease, Molecular analysis, Endocrinology, Thyrotoxicosis, Neurology, Chromosomes, Human, Pair 1, Mutation, Female, Neurology (clinical), business
الوصف: Although sporadic thyrotoxic periodic paralysis (TPP) has a much higher prevalence in Asian than in all the other populations studied so far, it is also increasingly being seen at the emergency departments of the West, hence, it is vital to stress the importance of recognizing it. TPP shares some similarities with hypokalemic periodic paralysis (HOKPP). However, the pathophysiology of TPP and the reasons for this higher incidence are not known. We hypothesized that some mutations in the CACNA1S gene, which has been implicated in familial HOKPP, might play a role in TPP. We present 5 Chinese patients who suffer from TPP and demonstrate typical clinical features. No mutation was found on the whole CACNA1S gene. Therefore other molecular mechanisms will have to be examined in order to explain the different TPP incidences.
تدمد: 0014-3022
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91ebc6837362ee450f644b2dde29222cTest
https://pubmed.ncbi.nlm.nih.gov/12736539Test
حقوق: CLOSED
رقم الانضمام: edsair.doi.dedup.....91ebc6837362ee450f644b2dde29222c
قاعدة البيانات: OpenAIRE