Adult onset Charcot-Marie-Tooth disease type 1D with an Arg381Cys mutation of EGR2

Muscle and Nerve

Volumn 41, Issue 6, 2010, Pages 888-889

  Briani, Chiara ^a   Taioli, Federica ^b   Lucchetta, Marta ^a   Bombardi, Roberto ^c   Fabrizi, Gian Maria ^b  

^a UNIVERSITY OF PADOVA   (Italy)

^b UNIVERSITY OF VERONA   (Italy)

^c Bassano Hospital   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; CLINICAL ARTICLE; DEMYELINATING NEUROPATHY; FEMALE; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENETIC ANALYSIS; HEREDITARY MOTOR SENSORY NEUROPATHY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; LETTER; MALE; MOTOR NERVE CONDUCTION; NERVE POTENTIAL; NEUROPHYSIOLOGY; PRIORITY JOURNAL; TENDON REFLEX;

ADULT; AMINO ACID SUBSTITUTION; ARGININE; CHARCOT-MARIE-TOOTH DISEASE; CODON; CYSTEINE; EARLY GROWTH RESPONSE PROTEIN 2; FEMALE; HUMANS;

EID: 77953042826     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.21663     Document Type: Letter

References (8)

1. Topilko P, Schneider-Maunoury S, Levi G, Baron-Van Evercooren A, Chennoufi AB, Seitanidou T, et al. Krox-20 controls myelination in the peripheral nervous system. Nature 1994;371:796-799. (Pubitemid 24333867)
2. Warner LE, Mancias P, Butler IJ, McDonald CM, Keppen L, Koob KG, et al. Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. Nat Genet 1998;18:382-384. (Pubitemid 28158170)
3. Boerkoel CF, Takashima H, Bacino CA, Daentl D, Lupski JR.EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy. Neurogenetics 2001;3:153-157. (Pubitemid 33739054)
4. Yoshihara T, Kanda F, Yamamoto M, Ishihara H, Misu K, Hattori N, et al. A novel missense mutation in the early growth response 2 gene associated with late-onset Charcot-Marie-Tooth disease type 1. J Neurol Sci 2001;184:149-153. (Pubitemid 32178268)
5. Vandenberghe N, Upadhyaya M, Gatignol A, Boutrand L, Boucherat M, Chazot G, et al. Frequency of mutations in the early growth response 2 gene associated with peripheral demyelinating neuropathies. J Med Genet 2002;39:e81.
6. Szigeti K, Wiszniewski W, Saifi GM, Sherman DL, Sule N, Adesina AM, et al. Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations. Neurogenetics 2007;8:257-262. (Pubitemid 47624451)
7. Pareyson D, Taroni F, Botti S, Morbin M, Baratta S, Lauria G, et al. Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation. Neurology 2000;54:1696-1698. (Pubitemid 30226822)
8. Shy ME, Blake J, Krajewski K, Fuerst DR, Laura M, Hahn AF, et al. Reliability and validity of the CMT neuropathy score as a measure of disability. Neurology 2005;64:1209-1214. (Pubitemid 40490520)