Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 13-12-2017
Location 14q32.33
Name Charcot-Marie-Tooth disease, dominant intermediate E
Corresponding gene INF2
Main clinical features
  • distal muscle weakness and atrophy and distal sensory loss, and possible association with FSGS, including proteinuria, progression to end-stage renal disease, and a characteristic histologic pattern on renal biopsy
  • walking difficulties in infancy, requiring orthopedic corrections, and hand weakness; weakness of the peroneal and anterior tibial muscles with steppage gait
  • median age of onset of proteinuria was 18 years, and median age at onset of neurologic dysfunction was 13 years
  • Genetic determination autosomal dominant
    Function/system disorder neuromuscular
    Type disease