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- W2737014920 abstract "Article abstract The authors report three related patients, two girls and a boy, presenting a distinctive clinical phenotype characterized by early-onset, slowly progressive ataxia. Subsequently these patients experienced sensorineural deafness, resulting in complete hearing loss by the age of 12 years, and exhibited leukodystrophy on brain MRI. There was no mental deterioration. An extensive neurometabolic assessment failed to detect any anomalies in the three patients. The patients originated from a large consanguineous family in southern Italy (Calabria), with a pedigree that was traced back five generations. The disease’s pattern of transmission suggests an autosomal recessive trait." @default.
- W2737014920 created "2017-07-31" @default.
- W2737014920 date "1932-09-01" @default.
- W2737014920 modified "2023-09-27" @default.
- W2737014920 title "JOHN FRANCIS CUNNINGHAM, F.R.C.S., O.B.E" @default.
- W2737014920 doi "https://doi.org/10.1136/bjo.16.9.572" @default.
- W2737014920 hasPublicationYear "1932" @default.
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