Linkage analyses between dominant X-linked Charcot-Marie-Tooth disease, and 15 Xq11–Xq21 microsatellites in a new large family: Three new markers are closely linked to the gene

1994 ◽  
Vol 4 (5-6) ◽  
pp. 463-469 ◽  
Author(s):  
Eric Le Guern ◽  
Nicole Ravise ◽  
Michel Gugenheim ◽  
Alain Vignal ◽  
Christiane Penet ◽  
...  
Keyword(s):  
Large Family ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Linkage Analyses ◽  
Tooth Disease

scholarly journals Study of a Family with Progressive Ataxia, Tremor and Severe Distal Amyotrophy

1980 ◽  
Vol 7 (4) ◽  
pp. 345-349 ◽  
Author(s):  
J. Bouchard ◽  
P. Bedard ◽  
R. Bouchard
Keyword(s):  
Nerve Conduction ◽  
Motor Nerve ◽  
Elevated Serum ◽  
Sensory Nerve ◽  
Cerebellar Atrophy ◽  
Large Family ◽  
Charcot Marie Tooth ◽  
Progressive Development ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

SUMMARY:We have studied a large family of which seven members suffer from a progressive disease with onset in the first decade. The first symptoms were gait ataxia and clumsiness in all cases, followed by progressive development of severe distal amyotrophy reminiscent of Charcot-Marie-Tooth disease. In four patients a postural tremor which was relieved by pharmacological agents was also evident in the limbs or head.Cerebellar atrophy was confirmed on CT scan. Motor nerve conduction velocities were in the low normal range, while sensory nerve conduction was markedly decreased. All patients had impaired proprioception and vibration sense. The laboratory investigation revealed a normal CSF protein level and elevated serum bilirubin.The patients reported in this study apparently suffer from an original recessive form of spinal and olivocerebellar degeneration associated with a neuronal form of Charcot-Marie-Tooth disease.

Deletion of the P2 promoter of the GJB1 gene confirms X-linked Charcot–Marie–Tooth disease in a large family

2015 ◽  
Vol 25 ◽  
pp. S283-S284
Author(s):  
R. Kulshrestha ◽  
T. Antoniadi ◽  
S. Burton-Jones ◽  
M. Rogers ◽  
N. Kiely ◽  
...  
Keyword(s):  
Large Family ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
P2 Promoter ◽  
Tooth Disease
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