Mutations in MYO9B are associated with Charcot-Marie-Tooth disease type 2 neuropathies and isolated optic atrophy.

doi:10.1111/ene.15601

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Article

Mutations in MYO9B are associated with Charcot-Marie-Tooth disease type 2 neuropathies and isolated optic atrophy.

European journal of neurology - 1 Feb 2023

Cipriani Silvia, Guerrero-Valero Marta, Tozza Stefano, Zhao Edward, Vollmer Veith, Beijer Danique, Danzi Matt, Rivellini Cristina, Lazarevic Dejan, Pipitone Giovanni Battista, Grosz Bianca Rose, Lamperti Costanza, Marzoli Stefania Bianchi, Carrera Paola, Devoto Marcella, Pisciotta Chiara, Pareyson Davide, Kennerson Marina, Previtali Stefano C, Zuchner Stephan, Scherer Steven S, Manganelli Fiore, Bähler Martin, Bolino Alessandra

Abstract excerpt

BACKGROUND AND PURPOSE: Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of disorders caused by mutations in at least 100 genes. However, approximately 60% of cases with axonal neuropathies (CMT2) still remain without a genetic diagnosis. We aimed at identifying novel disease genes responsible for CMT2. METHODS: We performed whole exome sequencing and targeted next generation sequencing panel analyses...

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PMID: 36260368
DOI: 10.1111/ene.15601
PMCID: PMC10099703

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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