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Characterization of a novel variant in the HR1 domain of <i>MFN2</i> in a patient with ataxia, optic atrophy and sensorineural hearing loss

2021-01-11

Abstract excerpt

Pathogenic variants in MFN2 cause Charcot-Marie-Tooth disease (CMT) type 2A (CMT2A) and are the leading cause of the axonal subtypes of CMT. CMT2A is characterized by predominantly distal motor weakness and muscle atrophy, with highly variable severity and onset age. Notably, some MFN2 variants can also lead to other phenotypes such as optic atrophy, hearing loss and lipodystrophy. Despite the clear link between...

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Literature Corpus work
7eabd508-0fd4-5794-b941-f7f0e29db869
DOI
10.1101/2021.01.11.426268
Open publication

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Characterization of a novel variant in the HR1 domain of <i>MFN2</i> in a patient with ataxia, optic atrophy and sensorineural hearing lossDOI 10.1101/2021.01.11.426268
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