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

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

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...

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Bibliographic Details
Main Authors: Olga A. Klochkova, Alexey L. Kurenkov, Natalya V. Zhurkova, Kirill V. Savostyanov, Ilya S. Zhanin, Ayaz M. Mamedyarov, Ilona M. Tardova
Format: Article
Language:English
Published: "Paediatrician" Publishers LLC 2017-09-01
Series:Вопросы современной педиатрии
Subjects:
axonal neuropathy
hint1 gene
aran-nm
neuromyotonia
peripheral neuropathy with neuromyotonia
hereditary polyneuropathy
motor neuropathy
charcot–marie–tooth disease type 2
Online Access:https://vsp.spr-journal.ru/jour/article/view/1793
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