Article
Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse.
American journal of human genetics - 1 Mar 2002
De Sandre-Giovannoli Annachiara, Chaouch Malika, Kozlov Serguei, Vallat Jean-Michel, Tazir Meriem, Kassouri Nadia, Szepetowski Pierre, Hammadouche Tarik, Vandenberghe Antoon, Stewart Colin L, Grid Djamel, Lévy Nicolas
Abstract excerpt
The Charcot-Marie-Tooth (CMT) disorders comprise a group of clinically and genetically heterogeneous hereditary motor and sensory neuropathies, which are mainly characterized by muscle weakness and wasting, foot deformities, and electrophysiological, as well as histological, changes. A subtype, CMT2, is defined by a slight or absent reduction of nerve-conduction velocities together with the loss of large...
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