Charcot-Marie-Tooth disease: A gent-dosage effect

Hospital Practice

Volumn 32, Issue 5, 1997, Pages 83-122

  Lupski, James R ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; DOUBLE STRANDED DNA; GAP JUNCTION PROTEIN; MYELIN; MYELIN PROTEIN;

ARTICLE; CARPAL TUNNEL SYNDROME; CHROMOSOME 17; CROSSING OVER; GENE DELETION; GENE DOSAGE; GENE DUPLICATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; NERVE CONDUCTION; NONHUMAN;

CARPAL TUNNEL SYNDROME; CHARCOT-MARIE-TOOTH DISEASE; CROSSING OVER, GENETIC; GENE DELETION; HUMANS; MULTIGENE FAMILY;

EID: 0030905270     PISSN: 87502836     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (13)

1. Chance PF et al: Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17. Hum Mol Genet 3:223, 1994
2. Lupski JR et al: DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 66:219, 1991
3. Lupski JR, Chance PF, Garcia CA: Inherited primary peripheral neuropathies: Molecular genetics and clinical implications of CMT1A and HNPP. JAMA 270:2326, 1993
4. Lupski JR, Roth JR, Weinstock GM: Chromosomal duplications in bacteria, fruit flies, and humans. Am J Hum Genet 58:21, 1996
5. Lupski JR: DNA diagnostics for Charcot-Marie-Tooth disease and related inherited neuropathies. Clin Chem 42:995, 1996
6. Murakami T et al: Charcot-Marie-Tooth disease and related inherited neuropathies. Medicine 75:233, 1996
7. Nelis E et al: Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: A European Collaborative Study. Eur J Hum Genet 4:25, 1996
8. Pentao L et al: Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit. Nat Genet 2:292, 1992
9. Reiter LT et al: A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element. Nat Genet 12:288, 1996
10. Roa BB et al: Charcot-Marie-Tooth disease type 1A: Association with a spontaneous point mutation in the PMP22 gene. N Engl J Med 329:96, 1993
11. Sereda M et al: A transgenic rat model of Charcot-Marie-Tooth disease. Neuron 16:1049, 1966
12. Tyson J et al: Deletions of chromosome 17p11.2 in multifocal neuropathies. Ann Neurol 39:180, 1996
13. 0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination. Neuron 17:451, 1996