GJB1 gene mutations in suspected inflammatory demyelinating neuropathies not responding to treatment

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 80, Issue 6, 2009, Pages 699-700

  Michell, A W ^a   Laura, M ^a   Blake, J ^a,b   Lunn, M P ^a   Cox, A ^c   Gibbons, V S ^a   Davis, M B ^a   Wood, N W ^a   Manji, H ^a   Houlden, H ^a   Murray, N M F ^a   Reilly, M M ^a  

^a NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^b NORFOLK AND NORWICH UNIVERSITY HOSPITAL   (United Kingdom)

^c ADDENBROOKE S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AZATHIOPRINE; IMMUNOGLOBULIN; STEROID; CONNEXIN 32; GAP JUNCTION PROTEIN;

ADULT; ANAMNESIS; CASE REPORT; CEREBROSPINAL FLUID ANALYSIS; CHRONIC INFLAMMATORY DEMYELINATING POLYNEUROPATHY; CLINICAL FEATURE; DISEASE DURATION; ELECTROPHYSIOLOGY; FEMALE; GENE MUTATION; GENE SEQUENCE; GJB1 GENE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN TISSUE; LETTER; MALE; MEDIAN NERVE; MUTATOR GENE; NERVE BIOPSY; NERVE CONDUCTION; PRIORITY JOURNAL; SURAL NERVE; TREATMENT RESPONSE; ULNAR NERVE; DIFFERENTIAL DIAGNOSIS; GENETICS; HETEROZYGOTE DETECTION; MIDDLE AGED; NEUROLOGIC EXAMINATION; NUCLEOTIDE SEQUENCE; POLYRADICULONEUROPATHY;

ADULT; CONNEXINS; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; FEMALE; HETEROZYGOTE DETECTION; HUMANS; MALE; MIDDLE AGED; NEURAL CONDUCTION; NEUROLOGIC EXAMINATION; POLYRADICULONEUROPATHY, CHRONIC INFLAMMATORY DEMYELINATING; YOUNG ADULT;

EID: 66149114821     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp.2008.150557     Document Type: Letter

References (6)

1. Dubourg O, Tardieu S, Birouk N, et al. Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease. Brain 2001;124:1958-1967
2. Hattori N, Yamamoto M, Yoshihara T, et al. Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and CX32 ): a clinicopathological study of 205 Japanese patients. Brain 2003;126:134-151
3. Tabaraud F, Lagrange E, Sindou P, et al. Demyelinating X-linked Charcot-Marie-Tooth disease: unusual electrophysiological findings. Muscle Nerve 1999;22:1442-1447
4. Gutierrez A, England JD, Sumner AJ, et al. Unusual electrophysiological findings in X-linked dominant Charcot-Marie-Tooth disease. Muscle Nerve 2000;23:182-188
5. Street VA, Meekins G, Lipe HP, et al. Charcot-Marie-Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes. Neuromuscul Disord 2002;12:643-650
6. Bennett CL, Shirk AJ, Huynh HM, et al. SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve. Ann Neurol 2004;55:713-720