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Article

Simultaneous MFN2 and GDAP1 mutations cause major mitochondrial defects in a patient with CMT.

Neurology - 26 Apr 2011

Cassereau J, Casasnovas C, Gueguen N, Malinge M-C, Guillet V, Reynier P, Bonneau D, Amati-Bonneau P, Banchs I, Volpini V, Procaccio V, Chevrollier A

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Source

Identifiers

PMID: 21519004
DOI: 10.1212/WNL.0b013e318217e77d

Genes

GDAP1
MFN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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Simultaneous MFN2 and GDAP1 mutations cause major mitochondrial defects in a patient with CMT.PMID 21519004Read ↗

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Deep geno- and phenotyping in two consanguineous families with CMT2 reveals HADHA as an unusual disease-causing gene and an intronic variant in GDAP1 as an unusual mutation.Semantic proximity Read ↗

MFN2-related neuropathies: Clinical features, molecular pathogenesis and therapeutic perspectives.Semantic proximity Read ↗

The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy.Semantic proximity Read ↗

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