Autosomal recessiveMFN2-related Charcot-Marie-Tooth disease with diaphragmatic weakness: Case report and literature review

2016 ◽  
Vol 170 (6) ◽  
pp. 1580-1584 ◽  
Author(s):  
Christopher A. Tan ◽  
Marina Rabideau ◽  
Amy Blevins ◽  
Marjorie Jody Westbrook ◽  
Tali Ekstein ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Diaphragmatic Weakness ◽  
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
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