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A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging
Published on: July 14, 2016
SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma
R Hirano1, H Takashima, F Umehara
1Department of Neurology and Geriatrics, Kagoshima University School of Medicine, Kagoshima city, Kagoshima, Japan.
Abstract:
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.
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