Histopathological features of X-linked Charcot-Marie-Tooth disease in 8 patients from 6 families with different connexin32 mutations

Journal of the Peripheral Nervous System

Volumn 6, Issue 2, 2001, Pages 79-84

  Vital, Anne ^a   Ferrer, Xavier ^a   Lagueny, Alain ^a   Vandenberghe, Antoon ^b   Latour, Philippe ^b   Goizet, Cyril ^a   Canron, Marie Hélène ^a   Louiset, Pierre ^a   Petry, Klaus G ^a   Vital, Claude ^a  

^a UNIVERSITÉ DE BORDEAUX   (France)

^b UNIVERSITÉ LYON 1   (France)

Author keywords

Charcot Marie Tooth disease; Connexin32; Genotype; Peripheral nerve biopsy

Indexed keywords

CONNEXIN 32;

ADULT; ARTICLE; CELL INTERACTION; CHILD; CLINICAL ARTICLE; DEMYELINATING DISEASE; FEMALE; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HISTOPATHOLOGY; HUMAN; MACROPHAGE; MALE; MYELINATED NERVE; PERONEUS NERVE; PRIORITY JOURNAL; SCHWANN CELL;

EID: 0034963370     PISSN: 10859489     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1529-8027.2001.01011.x     Document Type: Article

References (16)

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5. Genotype/phenotype correlations in X-linked dominant Charcot-Marie-Tooth disease
6. A unique point mutation in the PMP22 gene is associated with Charcot-Mane-Tooth disease and deafness
7. Peripheral myelin modification in CMT1B correlates with MPZ gene mutations
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9. Examination of the peripheral nerve biopsy
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12. X-linked dominant Charcot-Marie-Tooth disease: Nerve biopsies allow morphological evaluation and detection of connexin32 mutations
13. X-linked dominant Charcot-Marie-Tooth neuropathy: Clinical, electrophysiological, and morphological phenotype in four families with different connexin32 mutations
14. Sensorineural deafness in X-linked Charcot-Marie-Tooth disease with connexin 32 mutation (R142Q)
15. Demyelinating X-linked Charcot-Marie-Tooth disease: Unusual electrophysiological findings
16. Missense mutation (R15W) of the connexin32 gene in a family with X chromosomal Charcot-Marie-Tooth neuropathy with only female family members affected