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 Human genes: PMP22, peripheral myelin protein 22; MPZ, myelin protein zero; GJB1, gap junction protein, beta 1, 32kDa; MFN2, mitofusin 2.
Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients.
Mutation analysis in Chariot-Marie Tooth disease type 1: point mutations in the MPZ gene and the GJB1 gene cause comparable phenotypic heterogeneity.
X-Linked CMTX Xg13.1 GJB1 Interme- Dominant CMTDIA 19p12 ?
Among them, a total of 22 patients with GJB1 mutations were recruited in this study, which comprised 23.9% of the total CMT patients.
The clinical records and electrophysiological characteristics of these 22 CMT1X patients with GJB1 mutations were retrospectively collected and reviewed.
Mutations in the GJB1 gene were analyzed by targeted NGS.
Potential functional effects of GJB1 mutations were predicted using Polymorphism Phenotyping 2 (PolyPhen-2) software (http://genetics.bwh.harvard.edu/pph 2/), sorting intolerant from tolerant (SIFT) (http://sift.jcvi.org/), and Mutation Taster (http://www.mutationtaster.org/).
Molecular analysis identified nine patients (five males and four females, mean age 32 [+ or -] 12 years, range 14–51 years) with GJB1 mutations from 79 patients with a clinical diagnosis of CMT.
All patients with GJB1 mutations showed varying degrees (mild to severe) of muscular atrophy, sensory disturbance, diminished reflexes, and foot deformities.
Our laboratory currently uses sequencing to identify gene mutations in the GJB1 gene.
To validate the HRM method, we selected 18 known patient samples that were positive for GJB1 mutations (10 males and 8 females) and 4 control individuals (3 females and 1 male).
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- Gjalski, Ksavjer Šandor
- Gjalski, Ksavjer Sandor