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    Neurology. 2004 Aug 10;63(3):577-80.

    SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma.

    Hirano R, Takashima H, Umehara F, Arimura H, Michizono K, Okamoto Y, Nakagawa M, Boerkoel CF, Lupski JR, Osame M, Arimura K.

    Department of Neurology and Geriatrics, Kagoshima University School of Medicine, Kagoshima city, Kagoshima, Japan.

    The authors report a Japanese family segregating autosomal recessive Charcot-Marie-Tooth disease (CMT) with focally folded myelin, juvenile-onset glaucoma, and a nonsense mutation of SET binding factor 2 (SBF2). The consistent phenotypic features associated with SBF2 mutations are early-onset demyelinating neuropathy, myelin folding, and markedly decreased motor nerve conduction velocities; glaucoma associates with SBF2 nonsense mutations.

    PMID: 15304601 [PubMed - indexed for MEDLINE]

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