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1: Neurology. 2004 Aug 10;63(3):577-80.Click here to read Links

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

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]