In order to test the possibility that immune cells may play a role in the peripheral neuropathy of cx32 def mice (cx32 –/– and cx32 y/– genotypes), we evaluated the ...
... MPZ mutations (45 patients from 26 families) or Cx32 mutations (42 patients from 24 families; male only) were registered by the Study Group for Hereditary Neuropathy in ...
... 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.
Charcot-Marie-Tooth neuropathy X type 1 (CMTX1) is characterized by a moderate to severe ... Molecular genetic testing of GJB1 (Cx32) detects about 90% of cases of CMTX1.
Clinical and electrophysiological examinations showed the typical picture of aslowlypro-gressive demyelinating neuropathy related to Cx32 mutat ions.3,5 Remarkably ...
Congenital Hypomyelination Neuropathy in a Newborn Infant: Unusual Cause of ... 22 gene (PMP 22), myelin protein zero gene (MPZ or MP0) and connexin32 gene (Cx32 ...
Small fiber neuropathy in Charcot-Marie-Tooth disease. Zambelis T. EMG Laboratory ... function in patients with CMT1A and CMTX polyneuropathy. 17 CMT1A and 10 Cx32 ...
... of binding of Egr2/Sox10 to adjacent sites in vivo and also demonstrate that neuropathy ... Myelin protein zero (Mpz), Myelin-associated glycoprotein (Mag), Connexin-32 (Cx32 ...
Clinical and electrophysiological examinations showed the typical picture of a slowly progressive demyelinating neuropathy related to Cx32 mutations. 3, 5 Remarkably ...
... into: CMT 1 if the patient has an autosomal dominantly inherited demyelinating neuropathy ... GJβ 1) gene located on the Xchromosome, encoding the connexin 32 kd (Cx32) protein ...