PMID- 23279425
OWN - NLM
STAT- MEDLINE
DCOM- 20130919
LR  - 20231213
IS  - 1529-8027 (Electronic)
IS  - 1085-9489 (Print)
IS  - 1085-9489 (Linking)
VI  - 17 Suppl 3
IP  - 0 3
DP  - 2012 Dec
TI  - X-linked Charcot-Marie-Tooth disease.
PG  - 9-13
LID - 10.1111/j.1529-8027.2012.00424.x [doi]
AB  - The X-linked form of Charcot-Marie-Tooth disease (CMT1X) is the second most 
      common form of hereditary motor and sensory neuropathy. The clinical phenotype is 
      characterized by progressive muscle atrophy and weakness, areflexia, and variable 
      sensory abnormalities; central nervous system manifestations occur, too. Affected 
      males have moderate to severe symptoms, whereas heterozygous females are usually 
      less affected. Neurophysiology shows intermediate slowing of conduction and 
      distal axonal loss. Nerve biopsies show more prominent axonal degeneration than 
      de/remyelination. More than 400 different mutations in GJB1, the gene that 
      encodes the gap junction (GJ) protein connexin32 (Cx32), cause CMT1X. Many Cx32 
      mutants fail to form functional GJs, or form GJs with abnormal biophysical 
      properties. Schwann cells and oligodendrocytes express Cx32, and the GJs formed 
      by Cx32 play an important role in the homeostasis of myelinated axons. Animal 
      models of CMT1X demonstrate that loss of Cx32 in myelinating Schwann cells causes 
      a demyelinating neuropathy. An effective therapy remains to be developed.
CI  - (c) 2012 Peripheral Nerve Society.
FAU - Scherer, Steven S
AU  - Scherer SS
AD  - Department of Neurology, The Perelman School of Medicine, University of 
      Pennsylvania, Philadelphia, PA 19104, USA. sscherer@mail.med.upenn.edu
FAU - Kleopa, Kleopas A
AU  - Kleopa KA
LA  - eng
GR  - R01 NS055284/NS/NINDS NIH HHS/United States
GR  - U54 NS065712/NS/NINDS NIH HHS/United States
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
PT  - Review
PL  - United States
TA  - J Peripher Nerv Syst
JT  - Journal of the peripheral nervous system : JPNS
JID - 9704532
RN  - 0 (Connexins)
SB  - IM
MH  - Animals
MH  - Charcot-Marie-Tooth Disease/*genetics/*pathology/*physiopathology
MH  - Connexins/genetics
MH  - Disease Models, Animal
MH  - Genes, X-Linked/genetics
MH  - Humans
MH  - Gap Junction beta-1 Protein
PMC - PMC3779456
MID - NIHMS511092
EDAT- 2013/01/04 06:00
MHDA- 2013/09/21 06:00
PMCR- 2013/09/21
CRDT- 2013/01/03 06:00
PHST- 2013/01/03 06:00 [entrez]
PHST- 2013/01/04 06:00 [pubmed]
PHST- 2013/09/21 06:00 [medline]
PHST- 2013/09/21 00:00 [pmc-release]
AID - 10.1111/j.1529-8027.2012.00424.x [doi]
PST - ppublish
SO  - J Peripher Nerv Syst. 2012 Dec;17 Suppl 3(0 3):9-13. doi: 
      10.1111/j.1529-8027.2012.00424.x.