INF2Mutations in Charcot–Marie–Tooth Disease with Glomerulopathy
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چکیده
منابع مشابه
INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy.
BACKGROUND Charcot-Marie-Tooth neuropathy has been reported to be associated with renal diseases, mostly focal segmental glomerulosclerosis (FSGS). However, the common mechanisms underlying the neuropathy and FSGS remain unknown. Mutations in INF2 were recently identified in patients with autosomal dominant FSGS. INF2 encodes a formin protein that interacts with the Rho-GTPase CDC42 and myelin ...
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ژورنال
عنوان ژورنال: New England Journal of Medicine
سال: 2011
ISSN: 0028-4793,1533-4406
DOI: 10.1056/nejmoa1109122