Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease

Journal of Neurology Neurosurgery and Psychiatry

Volumn 73, Issue 3, 2002, Pages 304-306

  Lee, M J ^a   Nelson, I ^a   Houlden, H ^a   Sweeney, M G ^a   Hilton Jones, D ^b   Blake, J ^c   Wood, N W ^a   Reilly, M M ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b RADCLIFFE INFIRMARY   (United Kingdom)

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

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 32; GAP JUNCTION PROTEIN;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; FEMALE; FOOT MALFORMATION; FRAMESHIFT MUTATION; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HYPOREFLEXIA; MALE; MEDIAN NERVE; MISSENSE MUTATION; MOTOR NERVE CONDUCTION; MUSCLE ATROPHY; MUSCLE WEAKNESS; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SENSORY DYSFUNCTION; X CHROMOSOME LINKAGE;

ADOLESCENT; ADULT; AGED; AXONS; BRAIN; CHARCOT-MARIE-TOOTH DISEASE; CHILD; CONNEXINS; DEMYELINATING DISEASES; DNA MUTATIONAL ANALYSIS; FEMALE; GENE EXPRESSION; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MEDIAN NERVE; MIDDLE AGED; POINT MUTATION; REFLEX, ABNORMAL; REFLEX, STRETCH; X CHROMOSOME;

EID: 0036724849     PISSN: 00223050     EISSN: None     Source Type: Journal    
DOI: 10.1136/jnnp.73.3.304     Document Type: Article

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