Phenotypic variability in TRPV4-associated neuropathies and neuronopathies: a case series

Phenotypic variability in TRPV4-associated neuropathies and neuronopathies: a case series

TRPV4‑associated neuromuscular diseases represent a clinical spectrum of neuropathies and motor neuron disorders. To date, 3 phenotypic forms are distinguished. There are Charcot–Marie–Tooth disease type 2C, distal hereditary motor neuropathy type 8 (DHMN8), scapulo‑peroneal spinal muscular atrophy...

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Main Authors: A. F. Murtazina, P. N. Tsabay, G. E. Rudenskaya, L. A. Bessonova, F. M. Bostanova, D. M. Guseva, I. V. Sharkova, O. A. Shchagina, A. A. Orlova, O. P. Ryzhkova, T. V. Markova, A. S. Kuchina, S. S. Nikitin, E. L. Dadali
Format: Article
Language:Russian
Published: ABV-press 2023-06-01
Series:Нервно-мышечные болезни
Subjects:
distal hereditary motor neuropathy 8
charcot–marie–tooth disease 2c
scapuloperoneal spinal muscular atrophy
congenital distal spinal muscular atrophy
trpv4
Online Access:https://nmb.abvpress.ru/jour/article/view/542
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