Polymorphism analysis of Fukuyama type congenital muscular dystrophy (FCMD) siblings with different phenotypes

Brain and Development

Volumn 19, Issue 3, 1997, Pages 181-186

  Kondo Iida, Eri ^a   Saito, Kayoko ^a   Osawa, Makiko ^a   Ishihara, Tadayuki ^b   Toda, Tatsushi ^c   Fukuyama, Yukio ^a  

^a TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^b Higashisaitama National Hospital   (Japan)

^c UNIVERSITY OF TOKYO   (Japan)

Author keywords

Ambulation; Fukuyama type congenital muscular dystrophy (FCMD); Haplotype analysis; Microsatellite marker; Phenotype genotype correlation

Indexed keywords

ADOLESCENT; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 9Q; CLINICAL FEATURE; DNA POLYMORPHISM; GENETIC ANALYSIS; HAPLOTYPE; HUMAN; MOTOR DYSFUNCTION; MOTOR PERFORMANCE; MUSCULAR DYSTROPHY; PHENOTYPE; PRESCHOOL CHILD; SCHOOL CHILD; SIBLING;

ADOLESCENT; ALLELES; CHILD; CHILD, PRESCHOOL; DNA, SATELLITE; FAMILY HEALTH; FEMALE; GENOTYPE; HAPLOTYPES; HUMANS; MALE; MUSCULAR DYSTROPHIES; NUCLEAR FAMILY; PEDIGREE; PHENOTYPE; POLYMORPHISM, GENETIC; WALKING;

EID: 0030980202     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0387-7604(96)00556-6     Document Type: Article

References (18)

1. Fukuyama Y, Kawazura M, Haruna H. A peculiar form of congenital progressive muscular dystrophy. Report of fifteen cases. Paediatria Universitatis Tokyo (Tokyo) 1960; 4: 5-8.
2. McKusick VA, editor. Mendelian Inheritance in Man. A Catalogue of Human Genes and Genetic Disorders, 11th edn. Baltimore/London: Johns Hopkins University Press, 1994.
3. Fukuyama Y. Myopathies in infants and children (in Japanese). Rinsho shinkeigaku (Tokyo) 1961; 1: 409-416.
4. Ueda K, Ito T, Matsumoto K et al. Hypotonie infant (in Japanese). Nippon Rinsho (Osaka) 1968; 26: 3231-3256.
5. Segawa M. Clinical studies on congenital muscular dystrophy. Arthrogrypotic type congenital muscular dystrophy with mental retardation and facial muscle involvement (in Japanese). No to Hattatsu (Tokyo) 1970; 2: 439-451.
6. Sato S, Shinoda M. Eight cases of congenital muscular dystrophy (in Japanese). Shonika Shinryo (Tokyo) 1973; 36: 592-598.
7. Segawa M. Congenital muscular dystrophy (in Japanese). Shinkei Kenkyu No Shinpo (Tokyo) 1976; 20: 68-80.
8. Toda T, Segawa M, Nomura Y et al. Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q3-133. Nature Genet. 1993; 5: 283-286.
9. 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. 1994; 55: 946-950.
10. Kondo E, Saito K, Toda T, Ishihara D, Osawa M, Fukuyama Y. Prenatal diagnosis in Fukuyama type congenital muscular dystrophy by polymorphism analysis. Am. J. Med. Genet. 1996; 66: 169-174.
11. Fukuyama Y, Osawa M, Suzuki H. Congenital progressive muscular dystrophy of the Fukuyama type, clinical, genetic and pathological considerations. Brain Dev. (Tokyo) 1981; 3: 1-29.
12. Sambrook J, Fritsch EF, Maniatis T. Molecular Cloning; A Laboratory Manual, 2nd edn. Cold Spring Harbor, New York: Cold Spring Harbor Laboratory, 1989: 9.16-9.19.
13. Fukuyarna Y, Hirayama Y, Suzuki H, Suzuki M, Yokota J, Osawa M. National survey of congenital muscular dystrophy. In: Okinaka S, editor. The Proceedings of the 1975 Annual Meeting of the Muscular Dystrophy Research Group, sponsored by the Ministry of Health and Welfare of Japan, 1976: 125-126.
14. Osawa M, Fukuyama Y. Progressive muscular dystrophy (in Japanese). Shonishinkeigaku no shinpo (Tokyo) 1983; 12: 31-52.
15. Yoshioka M, Kuroki S. Clinical spectrum and genetic studies of Fukuyama congenital muscular dystrophy. Am. J. Med. Genet. 1994; 53: 245-250.
16. Kuwajima K, Misugi N, Komiya K. A case of progressive muscular dystrophy with multiple physical/mental handicaps and hydrocephalus (in Japanese). No to Hattatsu (Tokyo) 1974; 6: 29-35.
17. Itagaki Y, Sakamoto Y, Nishitani Y. Peculiar type of congenital muscular dystrophy (Fukuyama type) (in Japanese). Rinsho Shinkeigaku (Tokyo) 1980; 20: 897-903.
18. Riku S, Konagaya M, Ibi T, Sobue I. Unusual sibling cases of Fukuyama type congenital muscular dystrophy (in Japanese). Rinsho shinkeigaku (Tokyo) 1982; 22: 216-222.