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Screening for SH3TC2, PMP2, and BSCL2 Variants in a Cohort of Chinese Patients with Charcot-Marie-Tooth.

Chinese medical journal - 20 Jan 2018

Zhao Xin, Jiang Ming-Ming, Yan Yi-Zhou, Liu Lei, Xie Yong-Zhi, Li Xiao-Bo, Hu Zheng-Mao, Zi Xiao-Hong, Xia Kun, Tang Bei-Sha, Zhang Ru-Xu

Abstract excerpt

BACKGROUND: SH3TC2, PMP2, and BSCL2 genes are related to autosomal recessive (AR) Charcot-Marie-Tooth (CMT) disease type 1, autosomal dominant (AD)-CMT1, and AD-CMT2, respectively. Pathogenic variants in these three genes were not well documented in Chinese CMT patients. Therefore, this study aims to detect SH3TC2, PMP2, and BSCL2 pathogenic variants in a cohort of 315 unrelated Chinese CMT families. METHODS: A...

Topics

Adolescent
Adult
Charcot-Marie-Tooth Disease
Cohort Studies
Female
GTP-Binding Protein gamma Subunits
Humans
Intracellular Signaling Peptides and Proteins
Male
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Myelin P2 Protein

Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 29336362
DOI: 10.4103/0366-6999.222331
PMCID: PMC5776844

Genes

BSCL2
PMP2
EGR2
GDAP1
GJB1
HSPB1
HSPB8
MFN2
MPZ
NEFL
PMP22

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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