Two novel missense mutations in FGD4/FRABIN cause Charcot-Marie-Tooth type 4H (CMT4H).

Baudot, Cécile; Esteve, Clothilde; Castro, Christel; Poitelon, Yannick; Mas, Camille; Hamadouche, Tarik; El-Rajab, Maryam; Lévy, Nicolas; Megarbané, André; Delague, Valérie

Baudot, Cécile; Esteve, Clothilde; Castro, Christel; Poitelon, Yannick; Mas, Camille; Hamadouche, Tarik; El-Rajab, Maryam; Lévy, Nicolas; Megarbané, André; Delague, Valérie.

Affiliation

Baudot C; Inserm, UMR 910, Génétique Médicale et Génomique Fonctionnelle, Faculté de Médecine de la Timone, Marseille, France.

J Peripher Nerv Syst ; 17(2): 141-6, 2012 Jun.

Article in En | MEDLINE | ID: mdl-22734899

Subject(s)

Charcot-Marie-Tooth Disease/genetics; Microfilament Proteins/genetics; Mutation, Missense; Adolescent; Child, Preschool; DNA Mutational Analysis; Female; Humans; Male; Pedigree; Reverse Transcriptase Polymerase Chain Reaction

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Charcot-Marie-Tooth Disease / Mutation, Missense / Microfilament Proteins Type of study: Prognostic_studies Limits: Adolescent / Child, preschool / Female / Humans / Male Language: En Journal: J Peripher Nerv Syst Journal subject: NEUROLOGIA Year: 2012 Document type: Article Affiliation country: France

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