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...

Descripció completa

Dades bibliogràfiques

Autors principals:	Olga A. Klochkova, Alexey L. Kurenkov, Natalya V. Zhurkova, Kirill V. Savostyanov, Ilya S. Zhanin, Ayaz M. Mamedyarov, Ilona M. Tardova
Format:	Artigo
Idioma:	Inglês
Publicat:	"Paediatrician" Publishers LLC 2017-09-01
Col·lecció:	Вопросы современной педиатрии
Matèries:	axonal neuropathy hint1 gene aran-nm neuromyotonia peripheral neuropathy with neuromyotonia hereditary polyneuropathy motor neuropathy charcot–marie–tooth disease type 2
Accés en línia:	https://vsp.spr-journal.ru/jour/article/view/1793
Etiquetes:	Afegir etiqueta Sense etiquetes, Sigues el primer a etiquetar aquest registre!