...Pmp22) gene, is characterized by severe hypomyelination and is a representative model of Charcot-Marie-Tooth 1A (CMT1A) ...
...PMP22, and MTMR2. Here we describe a family with a heterozygous mutation in MPZ, confirmed in two generations.
...PMP22, the tumour necrosis factor (TNF) receptor gene, TNF receptor superfamily, member 21, and the mitochondrial comple...
...PMP22, P0 and P2.,We investigated immunoreactivity to P0, P2 and PMP22 proteins in 37 patients with GBS and 32 healthy c...
...PMP22 antibodies in the CMTX1 family varied with sex. Anti-PMP22 antibodies were found in all male patients but not in a...
...PMP22 gene. Point mutations in the PMP22 gene responsible for HNPP phenotypes are rare. We investigated a 17-years-old g...
...PMP22/MPV17-related membrane protein with dual functions in WB biogenesis. WSC localizes to large peroxisome membranes w...
...PMP22. We found that PMP22 mRNA but not protein is detectable in oligodendrocytes, whereas Schwann cells producing PMP22...
...PMP22; MIM *601097). Currently, there is no cure or obviously effective disease-modifying treatment for CMT. Two potenti...
...PMP22) on chromosome 17p11.2-12 causes CMT1A. The increased gene dosage effect of PMP22 is thought to be responsible for...
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