scholarly journals Case Report A novel mutation of the MFN2 gene in a Chinese family with Charcot-Marie-Tooth disease

2012 ◽  
Vol 11 (2) ◽  
pp. 1454-1459 ◽  
Author(s):  
Y.W. Wang ◽  
W.T. Han ◽  
M. Jiang ◽  
C.X. Lu ◽  
X.F. Li ◽  
...  
Keyword(s):  
Case Report ◽  
Novel Mutation ◽  
Chinese Family ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

A novel mutation of LRSAM1 in a Chinese family with Charcot-Marie-Tooth disease

2018 ◽  
Vol 23 (1) ◽  
pp. 55-59 ◽  
Author(s):  
Guohua Zhao ◽  
Jie Song ◽  
Mi Yang ◽  
Xiuhua Song ◽  
Xiaomin Liu
Keyword(s):  
Novel Mutation ◽  
Chinese Family ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

scholarly journals Charcot-Marie-Tooth disease type 2S: Case report of a rare form associated with spinal muscular atrophy type IV

2021 ◽  
Vol 12 ◽  
pp. 1-6
Author(s):  
Marco Orsini ◽  
Acary Souza Bulle Oliveira ◽  
Antônio Marcos da Silva Catharino ◽  
Mauricio Sant’ Anna Junior ◽  
Felipe dos Santos Souza ◽  
...  
Keyword(s):  
Case Report ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Disease Type ◽  
Rare Form ◽  
Charcot Marie Tooth ◽  
Spinal Muscular Atrophy Type ◽  
Charcot Marie Tooth Disease ◽  
Type Iv ◽  
Tooth Disease

scholarly journals Membrane metalloendopeptidase (MME) gene mutation associated type 2t late-onset Charcot-Marie-Tooth disease: Case report

2021 ◽  
Vol 12 ◽  
pp. 1-6
Author(s):  
Marcos RG de Freitas ◽  
Marco Orsini ◽  
Antônio Marcos da Silva Catharino ◽  
Mauricio Sant Anna Junior ◽  
Felipe dos Santos Souza ◽  
...  
Keyword(s):  
Case Report ◽  
Gene Mutation ◽  
Late Onset ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Disease Case ◽  
Tooth Disease

scholarly journals Charcot-Marie-Tooth disease and posterior scleritis: a case report

2000 ◽  
Vol 63 (5) ◽  
pp. 413-415
Author(s):  
Elisabeth N. Martins ◽  
André C. Branco ◽  
Lênio S. Alvarenga ◽  
Fausto Uno ◽  
Nilva B. Moraes ◽  
...  
Keyword(s):  
Case Report ◽  
Posterior Scleritis ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

Charcot–Marie–Tooth Disease Associated With a Novel Mutation in MFN2 Presenting With Subacute Vision Loss

2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Yafeng Li ◽  
Tomas S. Aleman ◽  
Colin C. Quinn ◽  
Tian Xia ◽  
Charles G. Miller ◽  
...  
Keyword(s):  
Vision Loss ◽  
Novel Mutation ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

BAG3 p.Pro209Ser mutation identified in a Chinese family with Charcot–Marie–Tooth disease

2019 ◽  
Vol 267 (4) ◽  
pp. 1080-1085 ◽  
Author(s):  
Jun Fu ◽  
Mingming Ma ◽  
Jia Song ◽  
Mi Pang ◽  
Gang Li ◽  
...  
Keyword(s):  
Chinese Family ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

A novel deletion mutation in GJB1 causes X-linked Charcot-Marie-Tooth disease in a Han Chinese family

2010 ◽  
Vol 42 (6) ◽  
pp. 922-926 ◽  
Author(s):  
Pengfei Lin ◽  
Fei Mao ◽  
Qiji Liu ◽  
Wanling Yang ◽  
Changshun Shao ◽  
...  
Keyword(s):  
Han Chinese ◽  
Deletion Mutation ◽  
Chinese Family ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease
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