Prevalence and origin of de novo duplications in Charcot-Marie-Tooth disease type 1A: First report of a de novo duplication with a maternal origin

American Journal of Human Genetics

Volumn 58, Issue 3, 1996, Pages 472-476

  Blair, Ian P ^a   Nash, Janet ^b   Gordon, Melissa J ^b   Nicholson, Garth A ^b  

^a UNIVERSITY OF SYDNEY   (Australia)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME 17P; GENDER; GENE DUPLICATION; GENE LOCUS; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; OOCYTE DEVELOPMENT; PEDIGREE ANALYSIS; PRIORITY JOURNAL;

CHARCOT-MARIE-TOOTH DISEASE; CHROMOSOMES, HUMAN, PAIR 17; CROSSING OVER, GENETIC; DNA; FEMALE; GENOTYPE; HUMANS; MALE; MULTIGENE FAMILY; MUTATION; PEDIGREE;

EID: 0030030169     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (5)

1. Archard C, Thiers J (1924) Polynérvrite chronique hypertrophique de l'adulte. Rev Neurol (Paris) 39:146
2. Bergoffen J, Trofatter J, Pericak-Vance MA, Haines JL, Chance PF, Fischbeck FH (1993) Linkage localization of X-linked Charcot-Marie-Tooth disease. Am J Hum Genet 52:312-318
3. Blair IP, Kennerson ML, Nicholson GA (1995) Detection of Charcot-Marie-Tooth type 1A duplication by PCR. Clin Chem 41:1105-1108
4. Charcot JM, Marie P (1886) Sur une forme particuliere d'atrophie musculaire progressiv souvent familial debutante par les pieds et les jambes et atteignant plus tard les mains. Rev Med (Paris) 6:97
5. Dyck PJ, Chance P, Lebo R, Carney JA (1993) Hereditary motor and sensory neuropathy. In: Dyck PJ (ed) Peripheral neuropathy, Vol. 2, 3d ed. WB Saunders, Philadelphia, pp 1094-1132