Article
Phenotypic heterogeneity in hereditary motor neuropathy type V: a new case report series.
Acta neurologica Belgica - 1 Mar 2012
Pennisi Manuela, Raggi Alberto, Barone Rita, Muglia Maria, Citrigno Luigi, Cantone Mariagiovanna, Lanza Giuseppe, Pennisi Giovanni, Ferri Raffaele, Bella Rita
Abstract excerpt
Previous studies have revealed a wide phenotypic heterogeneity in hereditary motor neuropathy type V in which upper and lower motor neurons and peripheral motor axons are variously affected, even within the same family. In this case series, we describe the genetic, clinical and electrophysiological features of patients belonging to a four-generation Italian family. Because of a possible anticipation phenomenon,...
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