Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

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Drugs

Adeno-associated virus serotype 8 containing the human RdCVF sequence and the human RdCVFL sequence, Combination of three adeno-associated viral vectors of serotype 8 containing the 5'-, the body- and the 3'- coding sequences of human CEP290 fused to inteins

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In 10 persons in 4 generations, Furukawa et al. (1968) found muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus. The diabetes was of relatively late onset. The disorder resembled Refsum syndrome (266500) except in its mode of inheritance. Several instances of male-to-male transmission were observed.