Charcot-Marie-Tooth disease type 2C: a distinct genetic entity. Clinical and molecular characterization of the first European family.

Santoro, L; Manganelli, F; Di Maio, L; Barbieri, F; Carella, M; D'Adamo, P; Casari, G

Santoro, L; Manganelli, F; Di Maio, L; Barbieri, F; Carella, M; D'Adamo, P; Casari, G.

Affiliation

Santoro L; Department of Neurological Sciences, Servizio di Neurofisiopatologia, University of Naples "Federico II", via Sergio Pansini 5, 80131, Naples, Italy. lusantor@unina.it

Neuromuscul Disord ; 12(4): 399-404, 2002 May.

Article in En | MEDLINE | ID: mdl-12062259

Subject(s)

Charcot-Marie-Tooth Disease/diagnosis; Charcot-Marie-Tooth Disease/genetics; Adult; Aged; Charcot-Marie-Tooth Disease/complications; Child; Diaphragm; Electromyography; Europe; Family Health; Female; Humans; Male; Middle Aged; Paresis/etiology; Paresis/genetics; Pedigree; Vocal Cord Paralysis/etiology; Vocal Cord Paralysis/genetics

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Collection: 01-internacional Database: MEDLINE Main subject: Charcot-Marie-Tooth Disease Type of study: Etiology_studies Limits: Adult / Aged / Child / Female / Humans / Male / Middle aged Country/Region as subject: Europa Language: En Journal: Neuromuscul Disord Journal subject: NEUROLOGIA Year: 2002 Document type: Article Affiliation country: Italy

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