Mutations in FGD4 Encoding the Rho GDP/GTP Exchange Factor FRABIN Cause Autosomal Recessive Charcot-Marie-Tooth Type 4H

Charcot-Marie-Tooth (CMT) disorders are a clinically and genetically heterogeneous group of hereditary motor and sensory neuropathies characterized by muscle weakness and wasting, foot and hand deformities, and electrophysiological changes. The CMT4H subtype is an autosomal recessive demyelinating f...

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Hlavní autoři: Delague, Valérie , Jacquier, Arnaud , Hamadouche, Tarik , Poitelon, Yannick , Baudot, Cécile , Boccaccio, Irène , Chouery, Eliane , Chaouch, Malika , Kassouri, Nora , Jabbour, Rosette , Grid, Djamel , Mégarbané, André , Haase, Georg , Lévy, Nicolas 
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society of Human Genetics 2007
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1950914/
https://ncbi.nlm.nih.gov/pubmed/17564959
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