PMID- 15508871
OWN - NLM
STAT- MEDLINE
DCOM- 20050105
LR  - 20231213
IS  - 2072-0939 (Print)
IS  - 2072-0939 (Linking)
VI  - 27
IP  - 7
DP  - 2004 Jul
TI  - Clinical and electrophysiological studies of a family with probable X-linked 
      dominant Charcot-Marie-Tooth neuropathy and ptosis.
PG  - 489-500
AB  - BACKGROUND: The X-linked dominant Charcot-Marie-Tooth neuropathy (CMTX) is a 
      hereditary motor and sensory neuropathy linked to a variety of mutations in the 
      connexin32 (Cx32) gene. Clinical and genetic features of CMTX have not previously 
      been reported in Taiwanese. METHODS: Clinical evaluations and 
      electrophysiological studies were carried out on 25 family members of a Taiwanese 
      family group. Molecular genetic analysis of the Cx32 gene was performed. A sural 
      nerve biopsy was obtained from 1 patient. RESULTS: Nine patients had clinical 
      features of X-linked dominant inheritance and a moderate Charcot-Marie-Tooth 
      (CMT) neuropathy phenotype. Molecular genetic analysis showed no mutation of the 
      Cx32 coding region, but revealed a G-to-A transition at position -215 of the 
      nerve-specific promoter P2 of the Cx32 gene. Ptosis is 1 clinical manifestation 
      of neuropathy in this probable CMTX family. Familial hyperthyroidism is an 
      additional independent feature of the family. Electrophysiological and 
      histological studies showed features of axonal neuropathy. Multimodality evoked 
      potential studies revealed normal central motor and sensory conduction 
      velocities. CONCLUSIONS: The presence of ptosis in this family illustrates the 
      existence of clinical heterogeneity among related family members with CMTX 
      similar to that in CMT of autosomal inheritance. Electrophysiological and 
      histological findings revealed normal central conduction and axonal neuropathy.
FAU - Wu, Tony
AU  - Wu T
AD  - First Section, Department of Neurology, Chang Gung Memorial Hospital, Taipei, 
      Taiwan, ROC. tonywu@adm.cgmh.org.tw
FAU - Wang, Hung-Li
AU  - Wang HL
FAU - Chu, Chun-Che
AU  - Chu CC
FAU - Yu, Jia-Ming
AU  - Yu JM
FAU - Chen, Jeng-Yeou
AU  - Chen JY
FAU - Huang, Chin-Chang
AU  - Huang CC
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - China (Republic : 1949- )
TA  - Chang Gung Med J
JT  - Chang Gung medical journal
JID - 101088034
RN  - 0 (Connexins)
SB  - IM
MH  - Acute Disease
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Blepharoptosis/*complications
MH  - Charcot-Marie-Tooth Disease/*complications/genetics/physiopathology
MH  - Connexins/*genetics
MH  - Electrophysiology
MH  - Female
MH  - Genes, Dominant
MH  - Genetic Diseases, X-Linked/*complications/genetics/physiopathology
MH  - Humans
MH  - Hyperthyroidism/complications
MH  - Male
MH  - Middle Aged
MH  - Mutation/genetics
MH  - Pedigree
MH  - Polymerase Chain Reaction
MH  - Gap Junction beta-1 Protein
EDAT- 2004/10/29 09:00
MHDA- 2005/01/06 09:00
CRDT- 2004/10/29 09:00
PHST- 2004/10/29 09:00 [pubmed]
PHST- 2005/01/06 09:00 [medline]
PHST- 2004/10/29 09:00 [entrez]
AID - 2707/270702 [pii]
PST - ppublish
SO  - Chang Gung Med J. 2004 Jul;27(7):489-500.