A novel missense mutation in the early growth response 2 gene associated with late-onset Charcot-Marie-Tooth disease type 1

Journal of the Neurological Sciences

Volumn 184, Issue 2, 2001, Pages 149-153

  Yoshihara, Tsuyoshi ^a   Kanda, Fumio ^b   Yamamoto, Masahiko ^a   Ishihara, Hiroyuki ^b   Misu, Ken Ichiro ^a   Hattori, Naoki ^a   Chihara, Kazuo ^b   Sobue, Gen ^a  

^a NAGOYA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b KOBE UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

CMT1; EGR2; Late onset; Mutation; NIRCA

Indexed keywords

ZINC FINGER PROTEIN;

AGED; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CLINICAL FEATURE; DNA SEQUENCE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; MISSENSE MUTATION; MOTOR NERVE CONDUCTION; PHENOTYPE; PRIORITY JOURNAL;

AGED; BIOPSY; CHARCOT-MARIE-TOOTH DISEASE; DNA-BINDING PROTEINS; EARLY GROWTH RESPONSE PROTEIN 2; HUMANS; MALE; MUTATION, MISSENSE; PHENOTYPE; SURAL NERVE; TRANSCRIPTION FACTORS;

EID: 0035283112     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-510X(00)00504-9     Document Type: Article

References (16)

1. Hereditary motor and sensory neuropathies
2. DNA duplication associated with Charcot-Marie-Tooth disease type 1A
3. Analysis of the DNA duplication 17p11.2 in Charcot-Marie-Tooth neuropathy type 1 pedigrees: additional evidence for a third autosomal CMT1 locus
4. Locations of crossover breakpoints within the CMT1A-REP repeat in Japanese patients with CMT1A and HNPP
5. Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene
6. Connexin mutations in X-linked Charcot-Marie-Tooth disease
7. Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies
8. A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease
9. Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype
10. A R381H mutation in the EGR2 gene associated with a severe peripheral neuropathy with hypotonia
11. Cranial nerve involvement in C.M.T. disease type 1 due to early growth response 2 gene mutation
12. Mutations in the peripheral myelin protein zero and connexin32 genes detected by non-isotopic RNase cleavage assay and their phenotypes in Japanese patients with Charcot-Marie-Tooth disease
13. Krox-20 controls SCIP expression, cell cycle exit and susceptibility to apoptosis in developing Myelinating Schwann cells
14. Krox-20 controls myelination in the peripheral nervous system
15. Zinc finger-DNA recognition: crystal structure of a Zif268-DNA complex at 2.1A
16. High frequency of mutations in codon 98 of the peripheral myelin protein P0 gene in 20 French CMT1 patients