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Article

A novel de novo MFN2 mutation causing CMT2A with upper motor neuron signs.

Neurogenetics - 1 Oct 2009

Ajroud-Driss S, Fecto F, Ajroud K, Yang Y, Donkervoort S, Siddique N, Siddique T

Abstract excerpt

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Topics

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Share to Amino Acid Sequence
Share to Amino Acid Substitution
Share to Charcot-Marie-Tooth Disease
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19350291
DOI: 10.1007/s10048-009-0188-y

Genes

MFN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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A novel de novo MFN2 mutation causing CMT2A with upper motor neuron signs.PMID 19350291Read ↗

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Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study.Semantic proximity Read ↗

MFN2 mutations cause severe phenotypes in most patients with CMT2A.Semantic proximity Read ↗

MFN2-related genetic and clinical features in a cohort of Chinese CMT2 patients.Semantic proximity Read ↗

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Early-onset cerebellar ataxia in a patient with CMT2A2.Semantic proximity Read ↗

An integrative analysis of genotype-phenotype correlation in Charcot Marie Tooth type 2A disease with MFN2 variants: A case and systematic review.Semantic proximity Read ↗

A cohort study of MFN2 mutations and phenotypic spectrums in Charcot-Marie-Tooth disease 2A patients.Semantic proximity Read ↗

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