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Neurology 2001;57:1906-1908
© 2001 American Academy of Neurology
Brief Communications

Episodes of generalized weakness in two sibs with the C164T mutation of the connexin 32 gene

Marios Panas, MD, Nikolaos Kalfakis, MD, Charalampos Karadimas, PhD and Demetris Vassilopoulos, MD PhD

From the Neurogenetics Unit, Department of Neurology, University of Athens, Greece.

Address correspondence and reprint requests to Prof. D. Vassilopoulos, Neurogenetics Unit, Department of Neurology, University of Athens, 74 Vas. Sophias Ave., Athens 11528, Greece; e-mail: mpanas{at}atlas.uoa.gr

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.




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