Genetic heterogeneity in three Chinese children with Fukuyama congenital muscular dystrophy

Neuromuscular Disorders

Volumn 10, Issue 2, 2000, Pages 108-112

  Jong, Yuh Jyh ^a   Kobayashi, Kazuhiro ^b   Toda, Tatsushi ^b   Kondo lida, Eri ^b   Huang, Song Chei ^c   Shen, Yu Zen ^d   Nonaka, Ikuya ^e   Fukuyama, Yukio ^f  

^a KAOHSIUNG MEDICAL UNIVERSITY   (Taiwan)

^b THE UNIVERSITY OF TOKYO   (Japan)

^c CHANG GUNG MEMORIAL HOSPITAL   (Taiwan)

^d NATIONAL TAIWAN UNIVERSITY   (Taiwan)

^e NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^f TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

Author keywords

9q31; Founder haplotype; Fukutin gene; Fukuyama congenital muscular dystrophy (FCMD)

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHINESE; ETHNIC GROUP; FEMALE; GENETIC ANALYSIS; GENETIC HETEROGENEITY; GENETIC POLYMORPHISM; HAPLOTYPE; HUMAN; INFANT; JAPAN; MALE; MUSCULAR DYSTROPHY; PRIORITY JOURNAL;

CHILD; FEMALE; GENETIC HETEROGENEITY; HUMANS; INFANT; MALE; MUSCULAR DYSTROPHIES; PEDIGREE; TAIWAN;

EID: 0033965890     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(99)00091-7     Document Type: Article

References (11)

1. Fukuyama Y., Osawa M., Suzuki H. Congenital progressive muscular dystrophy of the Fukuyama type: clinical, genetic and pathological considerations. Brain Dev. 3:1981;1-29.
2. Nonaka I., Chou S.M. Congenital muscular dystrophy. Vinken P.J., Bruyn G.W. Handbook of Clinical Neurology. 41:1979;27-50 North-Holland, Amsterdam.
3. Osawa M., Sumida S., Suzuki N., et al. Fukuyama type congenital progressive muscular dystrophy. Fukuyama Y., Osawa M., Saito K., et al. Congenital muscular dystrophies. 1997;31-68 Elsevier, Amsterdam.
4. Fukuyama Y., Osawa M., Saito K. Congenital muscular dystrophies: an overview. Arzimanoglou A., Goutières F. Trends in child neurology. 1996;107-135 John Libbey Eurotext, Paris.
5. Toda T., Segawa M., Nomura Y., et al. Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33. Nat Genet. 5:1993;283-286.
6. Toda T., Ikegawa S., Okui K., et al. Refined mapping of a gene responsible for Fukuyama-type congenital muscular dystrophy: evidence for strong linkage disequilibrium. Am J Hum Genet. 55:1994;946-950.
7. Toda T., Miyake M., Kobayashi K., et al. Linkage-disequilibrium mapping narrows the Fukuyama-type congenital muscular dystrophy (FCMD) candidate region to <100 kb. Am J Hum Genet. 59:1996;1313-1320.
8. Kobayashi K., Nakahori Y., Mizuno K., et al. Founder-haplotype analysis in Fukuyama-type congenital muscular dystrophy (FCMD). Hum Genet. 103:1998;323-327.
9. Kobayashi K., Nakahori Y., Miyake M., et al. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature. 394:1998;388-392.
10. Aida N. Fukuyama congenital muscular dystrophy: a neuroradiologic review. J M R I. 8:1998;317-326.
11. Kondo E., Saito K., Tanaka H., et al. Molecular genetic evidence of clinical heterogeneity in Fukuyama-type congenital muscular dystrophy. Hum Genet. 99:1997;427-432.