Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations.
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Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal PolyneuropathiesAssociation between MFN2 gene polymorphisms and the risk and prognosis of acute liver failure: a case-control study in a Chinese population.Axonal Transport Defects in a Mitofusin 2 Loss of Function Model of Charcot-Marie-Tooth Disease in Zebrafish.The MFN2 V705I Variant Is Not a Disease-Causing Mutation: A Segregation Analysis in a CMT2 Family.Mice Hemizygous for a Pathogenic Mitofusin-2 Allele Exhibit Hind Limb/Foot Gait Deficits and Phenotypic Perturbations in Nerve and MuscleMosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child.Functional and morphological impact of ER stress on mitochondria.Mitochondrial fusion proteins and human diseases.Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes.Disturbed mitochondrial dynamics and neurodegenerative disorders.Vocal cord paralysis in Charcot-Marie-Tooth type 4b1 disease associated with a novel mutation in the myotubularin-related protein 2 gene: A case report and review of the literatureMFN2 deletion of exons 7 and 8: founder mutation in the UK population.Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges.Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease.Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study.Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C.Charcot-Marie-Tooth disease type 2A with an autosomal-recessive inheritance: the first report of an adult-onset disease.Late-Onset Friedreich's Ataxia (LOFA) Mimicking Charcot-Marie-Tooth Disease Type 2: What Is Similar and What Is Different?A novel double mutation in cis in MFN2 causes Charcot-Marie-Tooth neuropathy type 2A.Missense mutations ofmitofusin 2in axonal Charcot–Marie–Tooth neuropathy: polymorphic or incomplete penetration?Mutational mechanisms inMFN2-related neuropathy: compound heterozygosity for recessive and semidominant mutations
P2860
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P2860
Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations.
description
2011 nî lūn-bûn
@nan
2011 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Recessive axonal Charcot-Marie ...... ozygous mitofusin 2 mutations.
@ast
Recessive axonal Charcot-Marie ...... ozygous mitofusin 2 mutations.
@en
type
label
Recessive axonal Charcot-Marie ...... ozygous mitofusin 2 mutations.
@ast
Recessive axonal Charcot-Marie ...... ozygous mitofusin 2 mutations.
@en
prefLabel
Recessive axonal Charcot-Marie ...... ozygous mitofusin 2 mutations.
@ast
Recessive axonal Charcot-Marie ...... ozygous mitofusin 2 mutations.
@en
P2093
P2860
P1433
P1476
Recessive axonal Charcot-Marie ...... rozygous mitofusin 2 mutations
@en
P2093
D Pareyson
M G Sweeney
M M Reilly
P2860
P304
P356
10.1212/WNL.0B013E3182242D4D
P407
P577
2011-06-29T00:00:00Z