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

A Novel MPZ Gene Mutation in Exon 2 Causing Late-Onset Demyelinating Charcot–Marie–Tooth Disease

2012 ◽  
Vol 13 (4) ◽  
pp. 206-208 ◽  
Author(s):  
Govindsinh Chavada ◽  
D. Ganesh Rao ◽  
Joanne Martindale ◽  
Marios Hadjivassiliou
Keyword(s):  
Gene Mutation ◽  
Late Onset ◽  
Exon 2 ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

Late-onset Charcot–Marie–Tooth disease 4F caused by periaxin gene mutation

Neurogenetics ◽  
2012 ◽  
Vol 13 (4) ◽  
pp. 359-365 ◽  
Author(s):  
Shoko Tokunaga ◽  
Akihiro Hashiguchi ◽  
Akiko Yoshimura ◽  
Kengo Maeda ◽  
Takashi Suzuki ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Late Onset ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

A novel missense mutation in the early growth response 2 gene associated with late-onset Charcot–Marie–Tooth disease type 1

2001 ◽  
Vol 184 (2) ◽  
pp. 149-153 ◽  
Author(s):  
Tsuyoshi Yoshihara ◽  
Fumio Kanda ◽  
Masahiko Yamamoto ◽  
Hiroyuki Ishihara ◽  
Ken-ichiro Misu ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Growth Response ◽  
Late Onset ◽  
Early Growth ◽  
Disease Type ◽  
Charcot Marie Tooth ◽  
Early Growth Response ◽  
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 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
Sign in / Sign up

Export Citation Format

Share Document