CNS involvement in CMTX1 caused by a novel connexin 32 mutation: a 6-year follow-up in neuroimaging and nerve conduction

Neurological Sciences

Volumn 37, Issue 7, 2016, Pages 1063-1070

  Xie, Chong ^a   Zhou, Xiajun ^d   Zhu, Desheng ^b   Liu, Wei ^a   Wang, Xiaoqing ^a   Yang, Hong ^c   Li, Zezhi ^d   Hao, Yong ^d   Zhang, Guang Xian ^e   Guan, Yangtai ^a,d  

^a SECOND MILITARY MEDICAL UNIVERSITY   (China)

^b FUDAN UNIVERSITY   (China)

^c Shanghai Yangpu Geriatric Hospital   (China)

^d SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^e THOMAS JEFFERSON UNIVERSITY   (United States)

Author keywords

CNS involvement; Cx32 gene mutation; Nerve conduction velocity; Symmetrical white matter abnormalities; X linked Charcot Marie Tooth disease

Indexed keywords

C REACTIVE PROTEIN; CONNEXIN 32; ELECTROLYTE; GENOMIC DNA; GAP JUNCTION PROTEIN;

ADULT; ARTICLE; BLOOD CELL COUNT; BLOOD SAMPLING; CENTRAL NERVOUS SYSTEM DISEASE; CLINICAL ARTICLE; COMPUTED TOMOGRAPHIC ANGIOGRAPHY; COMPUTER ASSISTED TOMOGRAPHY; DISEASE COURSE; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAM; ELECTROENCEPHALOGRAM; ELECTROLYTE BLOOD LEVEL; ELECTROPHYSIOLOGY; ERYTHROCYTE SEDIMENTATION RATE; FEMALE; FOLLOW UP; GENE; GENE MUTATION; GENETIC ANALYSIS; GJB1 GENE; HEMIZYGOSITY; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOSITY; HUMAN; LABORATORY TEST; LIMB WEAKNESS; LIVER FUNCTION TEST; MALE; MYOTATIC REFLEX; NERVE CONDUCTION VELOCITY; NEUROIMAGING; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PROTEIN BLOOD LEVEL; SENSORIMOTOR NEUROPATHY; SENSORY NERVE CONDUCTION VELOCITY; VISUAL EVOKED POTENTIAL; X CHROMOSOME LINKED DISORDER; X LINKED CHARCOT MARIE TOOTH DISEASE TYPE 1; YOUNG ADULT; CASE REPORT; CENTRAL NERVOUS SYSTEM; DIAGNOSTIC IMAGING; GENETICS; IMAGE PROCESSING; LONGITUDINAL STUDY; MUTATION; NERVE CONDUCTION; PATHOLOGY; PATHOPHYSIOLOGY; PHYSIOLOGY; SPINAL MUSCULAR ATROPHY;

CENTRAL NERVOUS SYSTEM; CONNEXINS; HUMANS; IMAGE PROCESSING, COMPUTER-ASSISTED; LONGITUDINAL STUDIES; MAGNETIC RESONANCE IMAGING; MALE; MUSCULAR ATROPHY, SPINAL; MUTATION; NEURAL CONDUCTION; YOUNG ADULT;

EID: 84964378661     PISSN: 15901874     EISSN: 15903478     Source Type: Journal    
DOI: 10.1007/s10072-016-2537-6     Document Type: Article

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