Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene.

Miltenberger-Miltenyi, Gabriel; Janecke, Andreas R; Wanschitz, Julia V; Timmerman, Vincent; Windpassinger, Christian; Auer-Grumbach, Michaela; Löscher, Wolfgang N

Miltenberger-Miltenyi, Gabriel; Janecke, Andreas R; Wanschitz, Julia V; Timmerman, Vincent; Windpassinger, Christian; Auer-Grumbach, Michaela; Löscher, Wolfgang N.

Affiliation

Miltenberger-Miltenyi G; Section of Clinical Genetics, Innsbruck Medical University, Anichstrasse 35, A-6020 Innsbruck, Austria.

Arch Neurol ; 64(7): 966-70, 2007 Jul.

Article in En | MEDLINE | ID: mdl-17620486

Subject(s)

Charcot-Marie-Tooth Disease/genetics; Charcot-Marie-Tooth Disease/physiopathology; Genetic Predisposition to Disease/genetics; Mutation/genetics; Neurofilament Proteins/genetics; Peripheral Nerves/physiopathology; Adult; Aged; Charcot-Marie-Tooth Disease/metabolism; Connexins/genetics; DNA Mutational Analysis; Electrodiagnosis; Female; Genetic Markers/genetics; Genetic Testing; Genotype; Humans; Male; Middle Aged; Molecular Sequence Data; Muscle Weakness/genetics; Muscle Weakness/metabolism; Muscle Weakness/physiopathology; Myelin Proteins/genetics; Neural Conduction/genetics; Pedigree; Peripheral Nerves/metabolism; Peripheral Nerves/pathology; Phenotype; Predictive Value of Tests; Sequence Homology, Amino Acid; Gap Junction beta-1 Protein

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Collection: 01-internacional Database: MEDLINE Main subject: Peripheral Nerves / Charcot-Marie-Tooth Disease / Neurofilament Proteins / Genetic Predisposition to Disease / Mutation Type of study: Prognostic_studies Limits: Adult / Aged / Female / Humans / Male / Middle aged Language: En Journal: Arch Neurol Year: 2007 Type: Article Affiliation country: Austria

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