Article
Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome.
Neuropediatrics - 1 Feb 2008
Auer-Grumbach M, Fischer C, Papić L, John E, Plecko B, Bittner R E, Bernert G, Pieber T R, Miltenberger G, Schwarz R, Windpassinger C, Grill F, Timmerman V, Speicher M R, Janecke A R
Abstract excerpt
Autosomal recessive Charcot-Marie-Tooth syndrome (AR-CMT) is often characterised by an infantile disease onset and a severe phenotype. Mutations in the ganglioside-induced differentiation-associated protein 1 (GDAP1) gene are thought to be a common cause of AR-CMT. Mutations in the periaxin (PRX) gene are rare. They are associated with severe demyelination of the peripheral nerves and sometimes lead to prominent...
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