PMID- 18318003
OWN - NLM
STAT- MEDLINE
DCOM- 20080731
LR  - 20080408
IS  - 0173-0835 (Print)
IS  - 0173-0835 (Linking)
VI  - 29
IP  - 7
DP  - 2008 Apr
TI  - Capillary electrophoresis for the detection of PMP22 gene duplication: study in 
      Mexican patients.
PG  - 1582-4
LID - 10.1002/elps.200700614 [doi]
AB  - Charcot-Marie-Tooth (CMT) disease is the most common inherited disorder of the 
      human peripheral nerve, with an estimated overall prevalence of 17-40/10 000 [1]. 
      The typical phenotype presents peroneal muscular atrophy and pes cavus [2]. CMT 
      is usually divided into two large types, about two-thirds of the patients have 
      CMT type 1 (CMT1), that affects the layer of myelin (demyelination). In type 2 
      (CMT2) the nerve fibers are affected (axonal). CMT diseases have autosomal 
      dominant, autosomal recessive, and X-linked inheritance [1]. The most frequent 
      subtype is 1A (CMT1A) with autosomal dominant transmission, secondary in most 
      cases to a tandem duplication of a 1.5 Mb DNA fragment on chromosome 17p11.2-p12 
      [4-7]. In this region, the codification of the peripheral myelin protein 22 
      (PMP22) takes place. The severity of the disease varies among patients, even 
      within the same family, from almost no symptoms to severe foot-drop and sensory 
      loss. The PMP22 gene has four exons and is regulated by two promoters located 
      toward the extreme 5'. The origin of the duplication that causes the disease is 
      an uneven exchange of the chromatids during the meiosis. This unequal 
      recombination occurs between two regions that limit the PMP22 gene, described as 
      REP places of 24 kb, proximal and distal [3, 4].
FAU - Hernandez-Zamora, Edgar
AU  - Hernandez-Zamora E
AD  - Genetics Department, Instituto Nacional de Rehabilitacion, Mexico City. 
      edghernandez@inr.gob.mx
FAU - de la Luz Arenas-Sordo, Maria
AU  - de la Luz Arenas-Sordo M
FAU - Maldonado-Rodriguez, Rogelio
AU  - Maldonado-Rodriguez R
LA  - eng
PT  - Journal Article
PL  - Germany
TA  - Electrophoresis
JT  - Electrophoresis
JID - 8204476
RN  - 0 (Myelin Proteins)
RN  - 0 (PMP22 protein, human)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Charcot-Marie-Tooth Disease/genetics
MH  - Child
MH  - Electrophoresis, Capillary/*methods
MH  - Female
MH  - *Gene Duplication
MH  - Humans
MH  - Male
MH  - Mexico
MH  - Middle Aged
MH  - Myelin Proteins/*genetics
EDAT- 2008/03/05 09:00
MHDA- 2008/08/01 09:00
CRDT- 2008/03/05 09:00
PHST- 2008/03/05 09:00 [pubmed]
PHST- 2008/08/01 09:00 [medline]
PHST- 2008/03/05 09:00 [entrez]
AID - 10.1002/elps.200700614 [doi]
PST - ppublish
SO  - Electrophoresis. 2008 Apr;29(7):1582-4. doi: 10.1002/elps.200700614.