scholarly journals Methyl-CpG-binding protein 2(MECP2) mutation type is associated with disease severity in Rett syndrome

2014 ◽  
Vol 51 (3) ◽  
pp. 152-158 ◽  
Author(s):  
Vishnu Anand Cuddapah ◽  
Rajesh B Pillai ◽  
Kiran V Shekar ◽  
Jane B Lane ◽  
Kathleen J Motil ◽  
...  
Keyword(s):  
Disease Severity ◽  
Rett Syndrome ◽  
Binding Protein ◽  
Mecp2 Mutation ◽  
Mutation Type

Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with bone disease severity in Rett syndrome

2019 ◽  
Author(s):  
Carla Caffarelli ◽  
Tomai Pitinca Maria Dea ◽  
Valentina Francolini ◽  
Roberto Canitano ◽  
felice Claudio De ◽  
...  
Keyword(s):  
Disease Severity ◽  
Rett Syndrome ◽  
Bone Disease ◽  
Binding Protein ◽  
Mecp2 Mutation ◽  
Mutation Type

scholarly journals Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with bone disease severity in Rett syndrome

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Carla Caffarelli ◽  
Stefano Gonnelli ◽  
Maria Dea Tomai Pitinca ◽  
Silvia Camarri ◽  
Antonella Al Refaie ◽  
...  
Keyword(s):  
Disease Severity ◽  
Rett Syndrome ◽  
Bone Disease ◽  
Binding Protein ◽  
Mecp2 Mutation ◽  
Mutation Type

Movement disorders in Rett syndrome: An analysis of 60 patients with detected MECP2 mutation and correlation with mutation type

2008 ◽  
Vol 23 (10) ◽  
pp. 1384-1390 ◽  
Author(s):  
Teresa Temudo ◽  
Elisabete Ramos ◽  
Karin Dias ◽  
Clara Barbot ◽  
Jose P. Vieira ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Movement Disorders ◽  
Mecp2 Mutation ◽  
Mutation Type

scholarly journals The relationship between MECP2 mutation type and health status and service use trajectories over time in a Rett syndrome population

2011 ◽  
Vol 5 (1) ◽  
pp. 442-449 ◽  
Author(s):  
Deidra Young ◽  
Ami Bebbington ◽  
Nick de Klerk ◽  
Carol Bower ◽  
Lakshmi Nagarajan ◽  
...  
Keyword(s):  
Health Status ◽  
Rett Syndrome ◽  
Service Use ◽  
Mecp2 Mutation ◽  
The Relationship ◽  
Over Time ◽  
Mutation Type

Anti-MOG antibody encephalitis mimicking neurological deterioration in a case of Rett syndrome with MECP2 mutation

2018 ◽  
Vol 40 (10) ◽  
pp. 943-946 ◽  
Author(s):  
Hiroo Tani ◽  
Nobutsune Ishikawa ◽  
Yoshiyuki Kobayashi ◽  
Shohei Yamaoka ◽  
Yuji Fujii ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Neurological Deterioration ◽  
Mecp2 Mutation

scholarly journals Ten novel insertion/deletion variants in MECP2 identified in Japanese patients with Rett syndrome

2019 ◽  
Vol 6 (1) ◽  
Author(s):  
Eri Takeshita ◽  
Aritoshi Iida ◽  
Chihiro Abe-Hatano ◽  
Eiji Nakagawa ◽  
Masayuki Sasaki ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Neurological Disorder ◽  
Binding Protein ◽  
Japanese Patients ◽  
Gene Encoding ◽  
Pathogenic Variants

Abstract Rett syndrome (RTT) is an X-linked progressive and severe neurological disorder caused by mutations in the gene encoding methyl CpG binding protein 2 (MECP2). Among the 49 typical RTT patients examined, we identified 10 novel and eight known insertion/deletion variants, and 31 known pathogenic variants in MECP2. The pathogenic variants presented here should be a useful resource for examining the correlation between the genotypes and phenotypes of RTT.

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