Molecular genetic evidence of clinical heterogeneity in Fukuyama-type congenital muscular dystrophy

Human Genetics

Volumn 99, Issue 4, 1997, Pages 427-432

  Kondo Iida, Eri ^a   Saito, Kayoko ^a   Tanaka, Hajime ^b   Tsuji, Shoji ^b   Ishihara, Tadayuki ^c   Osawa, Makiko ^a   Fukuyama, Yukio ^a   Toda, Tatsushi ^d  

^a TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^b NIIGATA UNIVERSITY   (Japan)

^c Higashisaitama National Hospital   (Japan)

^d UNIVERSITY OF TOKYO   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; DNA MARKER;

ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMOSOME 9Q; CLINICAL ARTICLE; CLINICAL FEATURE; FEMALE; GENE LINKAGE DISEQUILIBRIUM; GENETIC LINKAGE; HAPLOTYPE; HUMAN; INFANT; MALE; MUSCULAR DYSTROPHY; PRIORITY JOURNAL; SCHOOL CHILD; WALKING;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; FEMALE; GENETIC HETEROGENEITY; HAPLOTYPES; HUMANS; LINKAGE (GENETICS); LINKAGE DISEQUILIBRIUM; MALE; MOLECULAR BIOLOGY; MUSCULAR DYSTROPHIES; PEDIGREE;

EID: 0030893619     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050384     Document Type: Article

References (22)

1. Amaral O, Fortuna AM, Lacerda L, Pinto R, Sa Miranda MC (1994) Molecular characterisation of type 1 Gaucher disease Families and patients: intrafamilial heterogeneity at the clinical level. J Med Genet 31 :401-404
2. Fukuyama Y, Osawa M (1984) A genetic study of the Fukuyama type congenital muscular dystrophy. Brain Dev 6:373-390
3. Fukuyama Y, Kawazura M, Haruna H (1960) A peculiar form of congential progressive muscular dystrophy. Report of fifteen cases. Paediatr Univ Tokyo 4:5-8
4. Fukuyama Y, Osawa M, Suzuki H (1981) Congenital progressive muscular dystrophy of Fukuyama type - clinical, genetic and pathological consideratins. Brain Dev 3:1-29
5. Furlong RA, Lyall JEW, Goudie DR, Leversha MA, Affara NA, Ferguson-Smith MA (1992) A dinucleotide repeat polymorphism at the D9S109 locus. Nucleic Acids Res 20:925
6. Gyapay G, Morisette J, Vignal A, Dib C, Fizames C, Millasseau P, Marc S, Bernardi G, Lathrop M, Weissenbach J (1994) The 1993-94 Genethon human genetic linkage map. Nat Genet 7: 246-339
7. Hoffman EP, Kunkel LM (1989) Dystrophin abnormalities in Duchenne/Becker muscular dystrophy. Neuron 2:1019-1029
8. Jorde LB, Carey JC, White RL (1995) Medical genetics. Mosby, St. Louis, pp 69-74
9. Kwiatkowski DJ, Henske EP, Weimer K, Ozelius L, Gusella JF, Haines J (1992) Construction of a GT polymorphism map of human 9q. Genomics 12:229-240
10. Lathrop GM, Lalouel JM, Julier C, Ott J (1984) Strategies for multi-point linkage analysis in humans. Proc Natl Acad Sci USA 81:3443-3446
11. Lyall JEW, Furlong RA, Yuille MAR, Goudie DR, Leversha MA, Affara NA, Ferguson-Smith MA (1992) A dinucleotide repeat polymorphism at the D9S 127 locus. Nucleic Acids Res 20: 925
12. McKusick VA (1994) Mendelian inheritance in man, 11th edn. The Johns Hopkins University Press, Baltimore, Md
13. Osawa M, Kondo E, Suzuki H, Hirayama Y, Harada J, Suzuki N, Saito K, Fukuyama Y, Ishihara T (1996) A Japanese CMD case with diffuse white matter hyperlucency on CT and normal mentality: a 16 year follow-up study. J Tokyo Wom Med Coll 66:95-109
14. Ozelius L, Schuback DE, Stefansson K, Slaugenhaupt S, Gusella JF, Breakfield XO (1992) Dinucleotide repeat polymorphism for the hexabrachion gene (HXB) on chromosome 9q32-34. Hum Mol Genet 1:141
15. Sambrook J, Fritsch EF, Maniatis T (1989) Molecular cloning: a laboratory manual. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY, pp 9.16-9.19
16. Segawa M (1976) Congenital muscular dystrophy (in Japanese). Adv Neurol Sci 20:68-80
17. Toda T, Segawa M, Nomura Y, Nonaka I, Masuda K, Ishihara T, Suzuki M, Tomita I, Origuchi Y, Ohno K, Misugi N, Sasaki Y, Takada K, Kawai M, Ohtani K, Murakami T, Saito K, Fukuyama Y, Shimizu T, Kanazawa I, Nakamura Y (1993) Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33. Nat Genet 5:283-286
18. Toda T, Ikegawa S, Okui K, Kondo E, Saito K, Fukuyama Y, Yoshioka M, Kumagai T, Suzumori K, Kanazawa I, Nakamura Y (1994) Refined mapping of a gene responsible for Fukuyama type congenital muscular dystrophy: evidence for strong linkage disequilibrium. Am J Hum Genet 55:946-950
19. Toda T, Ikegawa S, Miyake M, Nakabori Y, Nakamura Y (1995) Dinucleotide repeat polymorphism on chromosome 9q32. Jpn J Hum Genet 40:333-334
20. Tome FMS, Evangelista T, Ledere A, Sunada Y, Manole E, Estournet B, Barots A, Campbell KP, Fardeau M (1994) Congenital muscular dystrophy with merosin deficiency. CR Acad Sci III 317:351-357
21. Weber JL (1993) Genome data base (GDB) version 4.1. Welch WH Medical Library: 21205, Baltimore, Md
22. Wilkie PJ, Krizman DB, Weber JL (1992) Linkage map of human chromosome 9 microsatellite polymorphisms. Genomics 12: 607-609