Two Novel Myelin Protein Zero Mutations in a Group of Chinese Patients
Mutations in the myelin protein zero gene are responsible for the autosomal dominant Charcot-Marie-Tooth disease (CMT). We summarized the genetic and clinical features of six unrelated Chinese families and the genetic spectrum of Chinese patients with myelin protein zero (MPZ) mutations. Our study r...
Enregistré dans:
Auteurs principaux: | Bin Chen, Zaiqiang Zhang, Na Chen, Wei Li, Hua Pan, Xingao Wang, Yuting Ren, Yuzhi Shi, Hongfei Tai, Songtao Niu |
---|---|
Format: | article |
Langue: | EN |
Publié: |
Frontiers Media S.A.
2021
|
Sujets: | |
Accès en ligne: | https://doaj.org/article/f6d8e57eec7144c499ff9d4b927a1e4f |
Tags: |
Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!
|
Documents similaires
-
Variante en gen HARS detectada en exoma clínico: etiología de neuropatía periférica tras más de 20 años sin diagnóstico
par: Lahoz Alonso Raquel, et autres
Publié: (2020) -
Cerebellar White Matter Abnormalities in Charcot–Marie–Tooth Disease: A Combined Volumetry and Diffusion Tensor Imaging Analysis
par: Sungeun Hwang, et autres
Publié: (2021) -
HINT1 founder mutation causing axonal neuropathy with neuromyotonia in South America: A case report
par: Bianca deAguiar Coelho Silva Madeiro, et autres
Publié: (2021) -
The Adaptation of English Liquids in Contemporary Korean: a Diachronic Study
par: Yoonjung Kang
Publié: (2012) -
Anatomical and Ultrastructural Sex Differences in Mean Diameter and Thickness of Myelinated Axons in Adult Rat Corpus Callosum
par: Shatarat,Amjad, et autres
Publié: (2020)