Episodes of generalized weakness in two sibs with the C164T mutation of the connexin 32 gene.
Two sibs with Charcot-Marie-Tooth disease had repeated episodes of generalized weakness. The patients had distal weakness and atrophy as well as findings of CNS involvement on brain MRI. Both patients bear the C164T mutation of the connexin 32 gene but no mutations of the genes responsible for hyper- or hypokalemic periodic paralysis. It is possible that both patients have one disease with complex phenotype due to abnormal expression of the connexin 32 gene.
Panas
M
M
Neurogenetics Unit, Department of Neurology, University of Athens, Greece.
Kalfakis
N
N
Karadimas
C
C
Vassilopoulos
D
D
D000328:Adult; D001921:Brain / Q000473:pathology / Q000503:physiopathology; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis / Q000235:genetics*; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D004569:Electroencephalography; D015870:Gene Expression / Q000502:physiology; D006580:Genetic Carrier Screening; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation / Q000235:genetics*; D009460:Neurologic Examination; D012729:Sex Chromosome Aberrations; D014960:X Chromosome; D000097002:Gap Junction beta-1 Protein
D017630:Connexins; D000097002:Gap Junction beta-1 Protein