X-linked Charcot-Marie-Tooth type 1: Stroke-like presentation of a novel GJB1 mutation

Journal of the Peripheral Nervous System

Volumn 19, Issue 2, 2014, Pages 183-186

  Sagnelli, Anna ^a   Piscosquito, Giuseppe ^a   Chiapparini, Luisa ^a   Ciano, Claudia ^a   Salsano, Ettore ^a   Saveri, Paola ^a   Milani, Micaela ^a   Taroni, Franco ^a   Pareyson, Davide ^a  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

Author keywords

Central nervous system symptoms; Connexin 32; GJB1 gene; Magnetic resonance imaging; X linked Charcot Marie Tooth disease

Indexed keywords

CONNEXIN 32; GAP JUNCTION BETA 1 PROTEIN; UNCLASSIFIED DRUG; GAP JUNCTION PROTEIN;

ADULT; ARM WEAKNESS; ARTICLE; ATAXIC APHASIA; CASE REPORT; CLINICAL FEATURE; CORPUS CALLOSUM; GAIT DISORDER; GENE MUTATION; HEMIPARESIS; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MAJOR CLINICAL STUDY; MALE; MIDDLE CEREBELLAR PEDUNCLE; MUSCLE ACTION POTENTIAL; MUSCLE WEAKNESS; NEUROIMAGING; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; PYRAMIDAL TRACT; WHITE MATTER; X CHROMOSOME LINKED DISORDER; X LINKED CHARCOT MARIE TOOTH TYPE 1; BRAIN; CEREBROVASCULAR ACCIDENT; GENETICS; MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY; PATHOPHYSIOLOGY;

ADULT; BRAIN; CHARCOT-MARIE-TOOTH DISEASE; CONNEXINS; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; STROKE;

EID: 84925355457     PISSN: 10859489     EISSN: 15298027     Source Type: Journal    
DOI: 10.1111/jns5.12070     Document Type: Article

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