Distal hereditary motor neuropathy in Korean patients with a small heat shock protein 27 mutation

摘要: Distal hereditary motor neuropathy (dHMN) is a heterogeneous disorder characterized by degeneration of nerves in the absence sensory abnormalities. Recently, mutations small heat shock protein 27 (HSP27) gene were found to cause dHMN type II or Charcot-Marie-Tooth disease 2F (CMT2F). The authors studied 151 Korean axonal CMT families, and large family with Ser135Phe mutation HSP27. This was inherited an autosomal dominant manner, well associated familial members phenotype. site located α-crystallin domain highly conserved between different species. frequency this HSP27 Koreans 0.6%. Magnetic resonance imaging analysis revealed that fatty infiltrations tended progressively extend distal proximal muscles lower extremities. In addition, thigh progressed affect posterior anterior compartments but lesser extents medial compartment, which differs from CMT1A patients presenting severe involvements less involvement compartment. describe clinical neuroimaging findings first mutation. To our knowledge, report II.