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Charcot-Marie-Tooth disease, X-linked, 1

Known as: HMSN, X-LINKED, CMTX1, HEREDITARY MOTOR AND SENSORY NEUROPATHY, X-LINKED 
Charcot-Marie-Tooth neuropathy that is inherited in an X-linked manner, and is associated with mutation(s) in the GJB1 gene, encoding gap junction… 
National Institutes of Health

Papers overview

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2013
2013
Purpose The purpose of this study was to investigate the relationships between ciliary muscle thickness (CMT), refractive error… 
2010
2010
Both the myotonic dystrophy type 1 (DM1) and the X-linked dominant Charcot–Marie–Tooth disease (CMTX1) are well-established… 
Highly Cited
2009
Highly Cited
2009
Mutations in GDAP1, an outer mitochondrial membrane protein responsible for recessive Charcot-Marie-Tooth disease (CMT4A), have… 
Highly Cited
2000
Highly Cited
2000
More than 130 different mutations in the gap junction integral plasma membrane protein connexin32 (Cx32) have been linked to the… 
Review
1999
Highly Cited
1998
Highly Cited
1998
The X-linked form of Charcot–Marie–Tooth disease (CMTX) is associated with mutations in the gene encoding connexin32 (Cx32… 
Highly Cited
1998
Highly Cited
1998
Abstract X-linked Charcot-Marie-Tooth neuropathy (CMTX) is caused by mutations in the connexin32 gene on Xq13. Because of… 
Review
1994
Review
1994
Collectively, the inherited disorders of peripheral nerves represent a common group of neurologic diseases. Charcot-Marie-Tooth…