Hereditary myoclonus dystonia (DYT11): A novel SGCE gene mutation with intrafamilial phenotypic heterogeneity

2010 ◽  
Vol 25 (7) ◽  
pp. 956-957 ◽  
Author(s):  
Sui H. Wong ◽  
Malcolm J. Steiger ◽  
Andrew J. Larner ◽  
Nicholas A. Fletcher
Keyword(s):  
Gene Mutation ◽  
Phenotypic Heterogeneity ◽  
Myoclonus Dystonia

Myoclonus dystonia syndrome: a novel ε-sarcoglycan gene mutation with variable clinical symptoms

Gene ◽  
2014 ◽  
Vol 548 (2) ◽  
pp. 306-307 ◽  
Author(s):  
Mohamad T. Akbari ◽  
Reza Mirfakhraie ◽  
Shohreh Zare-Karizi ◽  
Gholamali Shahidi
Keyword(s):  
Gene Mutation ◽  
Clinical Symptoms ◽  
Myoclonus Dystonia

Myoclonus‐dystonia presentation of ATM gene mutation in a Canadian Mennonite

2021 ◽  
Author(s):  
Jacky Ganguly ◽  
Mellany Tuesta Bernaola ◽  
Sharan Goobie ◽  
Asuri Prasad ◽  
Mandar Jog
Keyword(s):  
Gene Mutation ◽  
Atm Gene ◽  
Myoclonus Dystonia

A novel SGCE gene mutation causing myoclonus dystonia in a family with an unusual phenotype

2011 ◽  
Vol 101 (2) ◽  
pp. e90-e92 ◽  
Author(s):  
Kristina Tedroff ◽  
Arndt Rolfs ◽  
Andreas Norling
Keyword(s):  
Gene Mutation ◽  
Myoclonus Dystonia ◽  
Unusual Phenotype

NovelSGCE gene mutation in a Korean patient with myoclonus–dystonia with unique phenotype mimicking Moya–Moya disease

2007 ◽  
Vol 22 (8) ◽  
pp. 1206-1207 ◽  
Author(s):  
Eun Joo Chung ◽  
Won Yong Lee ◽  
Ji-Youn Kim ◽  
Jong-Hun Kim ◽  
Gyeong-Moon Kim ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Korean Patient ◽  
Moya Moya Disease ◽  
Myoclonus Dystonia

scholarly journals Anticipation and Phenotypic Heterogeneity in Korean Familial Amyotrophic Lateral Sclerosis with Superoxide Dismutase 1 Gene Mutation

2007 ◽  
Vol 3 (1) ◽  
pp. 38 ◽  
Author(s):  
Woojun Kim ◽  
Joong-Seok Kim ◽  
Kwang-Soo Lee ◽  
Young-Ju Gwoun ◽  
Jin-Mo Kim ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Superoxide Dismutase ◽  
Gene Mutation ◽  
Phenotypic Heterogeneity ◽  
Familial Amyotrophic Lateral Sclerosis ◽  
Superoxide Dismutase 1 ◽  
Lateral Sclerosis

Phenotypic heterogeneity in AAAS gene mutation

2007 ◽  
Vol 93 (9) ◽  
pp. 1257-1259 ◽  
Author(s):  
P Barat ◽  
C Goizet ◽  
A Tullio-Pelet ◽  
O Puel ◽  
C Labessan ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Phenotypic Heterogeneity ◽  
Aaas Gene Mutation ◽  
Aaas Gene

Psychiatric symptoms in myoclonus-dystonia syndrome are just concomitant features regardless of the SGCE gene mutation

2017 ◽  
Vol 42 ◽  
pp. 73-77 ◽  
Author(s):  
Ji-Young Kim ◽  
Woong-Woo Lee ◽  
Chae Won Shin ◽  
Han-Joon Kim ◽  
Sung-Sup Park ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Psychiatric Symptoms ◽  
Myoclonus Dystonia

Focal brain glucose hypermetabolism in myoclonus-dystonia syndrome caused by an epsilon-sarcoglycan gene mutation

2009 ◽  
Vol 15 (8) ◽  
pp. 614-616 ◽  
Author(s):  
Chun-Hwei Tai ◽  
Ruoh-Fan Yen ◽  
Chin-Hsien Lin ◽  
Kuo-Yang Yen ◽  
Ping-Keung Yip ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Brain Glucose ◽  
Myoclonus Dystonia

A novel SGCE gene mutation in a Moroccan sporadic case with myoclonus-dystonia syndrome

Gene Reports ◽  
2018 ◽  
Vol 11 ◽  
pp. 121-123
Author(s):  
Laila Rachad ◽  
Hicham El Otmani ◽  
Adnane Karkar ◽  
Nadia El Kadmiri ◽  
Sellama Nadifi
Keyword(s):  
Gene Mutation ◽  
Sporadic Case ◽  
Myoclonus Dystonia

Gene Mutation Associated With Miscarriage, Found More Common in PCOS

Ob Gyn News ◽  
2005 ◽  
Vol 40 (14) ◽  
pp. 11
Author(s):  
HEIDI SPLETE
Keyword(s):  
Gene Mutation
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