Mitofusin 2 gene mutation (R94Q) causing severe early-onset axonal polyneuropathy (CMT2A)

2007 ◽  
Vol 14 (5) ◽  
pp. 575-577 ◽  
Author(s):  
C. Neusch ◽  
J. Senderek ◽  
T. Eggermann ◽  
E. Elolff ◽  
M. Bähr ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Early Onset ◽  
Mitofusin 2 ◽  
Axonal Polyneuropathy

P3.21 A missense mutation in Mitofusin 2 causing early onset, progressive, axonal polyneuropathy (CMT2), optic atrophy and developmental delay in a child

2011 ◽  
Vol 21 (9-10) ◽  
pp. 688
Author(s):  
G.P. Hewawitharana ◽  
T. Antoniadi ◽  
C. Faulkner ◽  
M. Williams ◽  
J. Rankin ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Developmental Delay ◽  
Optic Atrophy ◽  
Early Onset ◽  
Mitofusin 2 ◽  
Axonal Polyneuropathy

Mitofusin 2 gene mutation causing early-onset CMT2A with different progressive courses

2013 ◽  
Vol 32 (01) ◽  
pp. 16-23 ◽  
Author(s):  
He Lv ◽  
Lu Wang ◽  
Wurong Li ◽  
Xiaohui Qiao ◽  
Yuexing Li ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Early Onset ◽  
Mitofusin 2

A novel mitofusin 2 MFN2 gene mutation causing early onset Charcot-Marie-Tooth 2A disease: Genetic, clinical and MR spectroscopy characterization

2013 ◽  
Vol 333 ◽  
pp. e456-e457
Author(s):  
M. Vavla ◽  
A. Martinuzzi ◽  
D. Montanaro ◽  
F. Frijia ◽  
G. Aghakhanyan ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Mr Spectroscopy ◽  
Early Onset ◽  
Mitofusin 2 ◽  
Charcot Marie Tooth

scholarly journals Novel SPTBN2 gene mutation and first intragenic deletion in early onset spinocerebellar ataxia type 5

2021 ◽  
Vol 8 (4) ◽  
pp. 956-963
Author(s):  
Romina Romaniello ◽  
Andrea Citterio ◽  
Elena Panzeri ◽  
Filippo Arrigoni ◽  
Marta De Rinaldis ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Spinocerebellar Ataxia ◽  
Early Onset ◽  
Spinocerebellar Ataxia Type ◽  
Intragenic Deletion

Early-onset Charcot-Marie-Tooth patients with mitofusin 2 mutations and brain involvement

2010 ◽  
Vol 81 (11) ◽  
pp. 1203-1206 ◽  
Author(s):  
K. W. Chung ◽  
B. C. Suh ◽  
S. Y. Cho ◽  
S. K. Choi ◽  
S. H. Kang ◽  
...  
Keyword(s):  
Early Onset ◽  
Mitofusin 2 ◽  
Charcot Marie Tooth ◽  
Brain Involvement
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