دورية أكاديمية
Hypokalaemic periodic paralysis due to the CACNA1S R1239H mutation in a large African family.
| العنوان: | Hypokalaemic periodic paralysis due to the CACNA1S R1239H mutation in a large African family. |
|---|---|
| المؤلفون: | Houinato D; UFR de Neurologie, Faculté des Sciences de la Santé, Cotonou, Benin., Laleye A, Adjien C, Adjagba M, Sternberg D, Hilbert P, Vallat JM, Darboux RB, Funalot B, Avode DG |
| المصدر: | Neuromuscular disorders : NMD [Neuromuscul Disord] 2007 May; Vol. 17 (5), pp. 419-22. Date of Electronic Publication: 2007 Apr 05. |
| نوع المنشور: | Case Reports; Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Pergamon Press Country of Publication: England NLM ID: 9111470 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0960-8966 (Print) Linking ISSN: 09608966 NLM ISO Abbreviation: Neuromuscul Disord Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Oxford ; New York : Pergamon Press, c1991- |
| مواضيع طبية MeSH: | Family Health* , Mutation*, Arginine/*genetics , Calcium Channels/*genetics , Histidine/*genetics , Hypokalemic Periodic Paralysis/*genetics, Adolescent ; Adult ; Africa ; DNA Mutational Analysis ; Female ; Humans ; Hypokalemic Periodic Paralysis/pathology ; Male ; Microscopy, Electron, Transmission ; Middle Aged ; Muscle, Skeletal/pathology ; Muscle, Skeletal/ultrastructure |
| مستخلص: | Hypokalaemic periodic paralysis (HypoKPP) is a skeletal muscle channelopathy caused by mutations in calcium (CACNA1S) and sodium (SCN4A) channel subunits. A small number of causative mutations have been found in European and Asian patients, but not in African patients yet. We have identified a large Beninese family in which HypoKPP segregated over five generations and was caused by the CACNA1S R1239H mutation. We report on the clinical and histopathological spectrum of the disorder in this family. A later age at onset (15.8+/-8.8years), and particular triggering factors due to specific African life conditions seem to be characteristic of our observation. |
| المشرفين على المادة: | 0 (CACNA1A protein, human) 0 (Calcium Channels) 4QD397987E (Histidine) 94ZLA3W45F (Arginine) |
| تواريخ الأحداث: | Date Created: 20070410 Date Completed: 20070724 Latest Revision: 20131121 |
| رمز التحديث: | 20221213 |
| DOI: | 10.1016/j.nmd.2007.01.020 |
| PMID: | 17418573 |
| قاعدة البيانات: | MEDLINE |
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