CHILD Syndrome: Case Report of a Chinese Patient and Literature Review of the NAD[P]H Steroid Dehydrogenase-Like Protein Gene Mutation

2015 ◽  
Vol 32 (6) ◽  
pp. e277-e282 ◽  
Author(s):  
Xiang-bin Mi ◽  
Miao-xuan Luo ◽  
Lin-lang Guo ◽  
Tang-de Zhang ◽  
Xian-wen Qiu
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Gene Mutation ◽  
Protein Gene ◽  
Chinese Patient ◽  
Child Syndrome ◽  
Steroid Dehydrogenase

scholarly journals Hyperkalemic Periodic Paralysis: Case Report with a SCNA4 Gene Mutation and Literature Review

2020 ◽  
Vol 2020 ◽  
pp. 1-4
Author(s):  
Manuela Quiroga-Carrillo ◽  
Cristian Correa-Arrieta ◽  
Fernando Ortiz-Corredor ◽  
Fernando Suarez-Obando
Keyword(s):  
Physical Activity ◽  
Case Report ◽  
Literature Review ◽  
Point Mutation ◽  
Gene Mutation ◽  
Musculoskeletal Disorder ◽  
Autosomal Dominant ◽  
Point Mutations ◽  
Periodic Paralysis ◽  
Hyperkalemic Periodic Paralysis

Hyperkalemic periodic paralysis is a rare musculoskeletal disorder characterized by episodic muscle weakness associated with hyperkalemia. It is a channelopathy associated with point mutations in the SCNA4 gene, with an autosomal dominant pattern of inheritance. We report the case of a 39-year-old patient with a picture with onset at six years of age, consisting of episodes of weakness caused by physical activity and intercurrent infectious processes, in whom a point mutation was found in the SCNA4 gene, not previously reported in the literature.

Parkinsonism in a patient with valosin-containing protein gene mutation showing: a case report

2017 ◽  
Vol 264 (6) ◽  
pp. 1284-1286 ◽  
Author(s):  
Motoki Fujimaki ◽  
Kazuaki Kanai ◽  
Sayaka Funabe ◽  
Masashi Takanashi ◽  
Kazumasa Yokoyama ◽  
...  
Keyword(s):  
Case Report ◽  
Gene Mutation ◽  
Protein Gene

scholarly journals Multiple gastrointestinal stromal tumors caused by a novel germline KIT gene mutation (Asp820Gly): a case report and literature review

2020 ◽  
Vol 23 (4) ◽  
pp. 760-764 ◽  
Author(s):  
Jun Arima ◽  
Masako Hiramatsu ◽  
Kohei Taniguchi ◽  
Toshihiro Kobayashi ◽  
Ichiro Tsunematsu ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Gene Mutation ◽  
Gastrointestinal Stromal Tumors ◽  
Stromal Tumors ◽  
Kit Gene

scholarly journals A TYK2 Gene Mutation c.2395G>A Leads to TYK2 Deficiency: A Case Report and Literature Review

2020 ◽  
Vol 8 ◽  
Author(s):  
Peilin Wu ◽  
Suqing Chen ◽  
Bin Wu ◽  
Junhong Chen ◽  
Ge Lv
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Gene Mutation
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