Syndrome with the association of Charcot-Marie-Tooth disease and nephropathy. So far, around 15 cases have been described. All patients had proteinuria at onset and some patients presented with nephrotic syndrome. In the majority of cases, pathological studies revealed glomerulosclerosis. Caused by heterozygous mutation in the INF2 gene on chromosome 14q32.
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Code Flag
3331479011
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
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3331480014
Charcot-Marie-Tooth disease with nephropathy syndrome