AUTOSOMAL RECESSIVE PERIPHERAL NEUROPATHY WITH NEUROMYOTONIA (ARAN-NM): DESCRIPTION OF A CLINICAL CASE CONFIRMED BY A MUTATION IN THE HINT1 GENE

• Main Authors: Olga A. Klochkova (Author), Alexey L. Kurenkov (Author), Natalya V. Zhurkova (Author), Kirill V. Savostyanov (Author), Ilya S. Zhanin (Author), Ayaz M. Mamedyarov (Author), Ilona M. Tardova (Author)
• Format: Book
• Published: "Paediatrician" Publishers LLC, 2017-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Autosomal recessive  peripheral neuropathy with neuromyotonia  (ARAN-NM)  is a relatively newly described  disease associated  with mutations  in the HINT1 gene.  It accounts  for a significant  part of the poorly  differentiated  forms  of axonal polyneuropathies.  We present the first in Russia de...