Diagnostic moléculaire des formes axonales de la maladie de Charcot-Marie-Tooth

Author:

Latour P.,Vial C.

Publisher

Elsevier BV

Subject

Clinical Neurology,Neurology

Reference18 articles.

1. Phenotype of Charcot-Marie-Tooth disease Type 2;Bienfait;Neurology,2007

2. Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect;Claramunt;J Med Genet,2005

3. The peroneal muscular atrophy syndrome: clinical, genetic, electrophysiological and nerve biopsy studies. I. Clinical, genetic and electrophysiological findings and classification;Davis;J Genet Hum.,1978

4. 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;De Sandre-Giovannoli;Am J Hum Genet.,2002

5. Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study;Dierick;Brain,2008

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