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 generali zed weakness. The patients had distal weakness and atrophy as well as findi ngs 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 conne xin 32 gene.