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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

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...

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Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: The American Society of Human Genetics 2002
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC384949/
https://ncbi.nlm.nih.gov/pubmed/11799477
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