Charcot-Marie-Tooth disease associated with periaxin mutations (CMT4F): Clinical, electrophysiological and genetic analysis of 24 patients;Maladie de Charcot-Marie-Tooth associée au gène de la périaxine (CMT4F): description clinique, électrophysiologique et génétique de 24 patients

Revue Neurologique

Volumn 169, Issue 8-9, 2013, Pages 603-612

  Renouil, M ^a   Stojkovic, T ^b   Jacquemont, M L ^a   Lauret, K ^a   Boue P ^a   Fourmaintraux, A ^a   Randrianaivo, H ^a   Tallot, M ^a   Mignard, D ^a   Roelens, P ^a   Tabailloux, D ^a   Bernard, R ^d   Cartault, F ^a   Chane Thien, E ^a   Dubourg, O ^b   Ferrer, X ^e,f   Sole, G ^e,f   Fournier, E ^b   Latour, P ^c   Lacour, A ^g   Mignard, C ^a   more..

^a Groupe Hospitalier Sud Réunion BP 350   (France)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^c HOSPICES CIVILS DE LYON   (France)

^d TIMONE HOSPITAL   (France)

^e HAUT LÉVÊQUE HOSPITAL   (France)

^f Laboratoire Maladies Rares Génétique et Métabolisme Bordeaux University   (France)

^g LILLE UNIVERSITY HOSPITAL   (France)

Author keywords

CMT4F; Demyelination; Genetic; NCV; Neuropathy; Periaxin; Reunion Island

Indexed keywords

ARTICLE; CLINICAL ARTICLE; CLINICAL ASSESSMENT; ELECTROPHYSIOLOGY; FEMALE; FOOT MALFORMATION; GENE; GENE MUTATION; GENETIC ANALYSIS; GLAUCOMA; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; LATENT PERIOD; MALE; MEDIAN NERVE; MOTOR NERVE CONDUCTION; MYOPIA; PERIAXIN GENE; REUNION; SCOLIOSIS; SEVERE ACUTE RESPIRATORY SYNDROME; STRABISMUS; WALKING; WHEELCHAIR;

CMT4F; DEMYELINATION; DÉMYÉLINISATION; GENETIC; GÉNÉTIQUE; ÎLE DE LA RÉUNION; NCV; NEUROPATHIE; NEUROPATHY; PERIAXIN; PÉRIAXINE; REUNION ISLAND; VCN;

ADULT; CHARCOT-MARIE-TOOTH DISEASE; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; ELECTROPHYSIOLOGY; FAMILY; FEMALE; FRANCE; HUMANS; INFANT; MALE; MEMBRANE PROTEINS; MUTATION; REUNION; YOUNG ADULT;

EID: 84884592043     PISSN: 00353787     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neurol.2013.07.004     Document Type: Article

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