Article
X-linked Charcot-Marie-Tooth disease (CMTX) in a severely affected female patient with scattered lesions in cerebral white matter.
Internal medicine (Tokyo, Japan) - 1 Jan 2007
Basri Rehana, Yabe Ichiro, Soma Hiroyuki, Matsushima Masaaki, Tsuji Sachiko, Sasaki Hidenao
Abstract excerpt
Charcot-Marie-Tooth neuropathy (CMT) is an inherited degenerative disorder of the peripheral nervous system that results in slowly progressive distal muscle weakness, atrophy and loss of proprioception in the affected areas. X-linked CMT (CMTX) has been localized to the pericentric region of the X chromosome. CMTX neuropathy is usually associated with mutations in exon 2 of the gap junction protein beta1 (GJB1)...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.