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 c...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.展开更多
文摘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.