CMT2A Harboring Mitofusin 2 Mutation with Optic Nerve Atrophy and Normal Visual Acuity.
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ABSTRACT:
SUBMITTER: Guerriero S
PROVIDER: S-EPMC7039061 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
Publications
CMT2A Harboring Mitofusin 2 Mutation with Optic Nerve Atrophy and Normal Visual Acuity.
Guerriero Silvana S D'Oria Francesco F Rossetti Giacomo G Favale Rosa Anna RA Zoccolella Stefano S Alessio Giovanni G Petruzzella Vittoria V
International medical case reports journal 20200220
Charcot-Marie-Tooth (CMT) constitutes a group of heterogeneous hereditary motor and sensor neuropathies. Mutations in mitofusin-2 (<i>MFN2</i>) cause CMT type 2A by altering mitochondrial fusion and trafficking along with the axonal microtubule system. In literature patients presenting with CMT2A are reported as having a subacute onset of optic atrophy associated with central scotoma and color vision defects. We report on the clinical and genetic findings in a 40 years-old Caucasian woman presen ...[more]
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