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Brown-Vialetto-Van-Laere syndrome : ウィキペディア英語版
Brown–Vialetto–Van Laere syndrome

Brown-Vialetto-Van-Laere syndrome (BVVL), sometimes known as Brown's Syndrome, is a rare degenerative disorder often initially characterized by progressive sensorineural deafness.〔

The syndrome most often affects children, adolescents, and young adults. As knowledge of BVVL grows some adult patients have now been diagnosed. There is no known cure, however with prompt treatment after diagnosis the prognosis is positive with most patients stabilizing and some minor improvements noted in certain cases.
==Genetics==

The disorder has been associated with various mutations in the SLC52A2 and ''SLC52A3'' genes. This gene is thought to be involved in transport of riboflavin.
BVVL is allelic and phenotypically similar to Fazio–Londe disease and likewise is inherited in an autosomal recessive manner.

抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)
ウィキペディアで「Brown–Vialetto–Van Laere syndrome」の詳細全文を読む



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