Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7

American Journal of Human Genetics

Volumn 64, Issue 2, 1999, Pages 556-562

  Speer, Marcy C ^a   Vance, Jeffery M ^a   Grubber, Janet M ^a   Graham, Felicia Lennon ^a   Stajich, Jeffrey M ^a   Viles, Kristi D ^a   Rogala, Allison ^a   McMichael, Robert ^b   Chutkow, Jerry ^c   Goldsmith, Claire ^d   Tim, Richard W ^a   Pericak Vance, Margaret A ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

^b UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^c UNIVERSITY AT BUFFALO   (United States)

^d CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; CHROMOSOME 7; CHROMOSOME MAP; DOMINANT GENE; FEMALE; GENETIC SCREENING; GENETICS; HUMAN; MALE; MUSCULAR DYSTROPHY; PEDIGREE;

ALLELES; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 7; FEMALE; GENES, DOMINANT; GENETIC SCREENING; HUMANS; MALE; MUSCULAR DYSTROPHIES; PEDIGREE;

EID: 0033073978     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302252     Document Type: Article

References (25)

1. Bashir R, Strachan T, Keers S, Stephenson A, Mahjhen I, Marconi G, Nashel L, et al (1994) A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p. Hum Mol Genet 3:455-457
2. Beckmann JS, Richard I, Hillaire D, Broux O, Antignac C, Bois E, Cann H, et al (1991) A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage analysis. C R Acad Sci III 312:141-148
3. Boehnke M (1986) Estimating the power of a proposed linkage study: a practical computer simulation approach. Am J Hum Genet 39:513-527
4. Bonnemann CG, Modi R, Noguchi S, Mizuno Y, Yoshida M, Gussoni E, McNally EM, et al (1995) β-Sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Nat Genet 11: 266-272
5. Chutkow JG, Heffner RR, Kramer AA, Edwards JA (1986) Adult-onset autosomal dominant limb-girdle muscular dystrophy. Ann Neurol 20:240-248
6. Gilchrist JM, Pericak-Vance MA, Silverman L, Roses AD (1988) Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy. Neurology 38:5-9
7. Haynes C, Speer MC, Peedin M, Roses, AD, Haines, JL, Vance, JM, Pericak-Vance MA (1995) PEDIGENE: a comprehensive data management system to facilitate efficient and rapid disease gene mapping. Am J Hum Genet Suppl 57:A193
8. Jackson CE, Strehler DA (1968) Limb-girdle muscular dystrophy: clinical manifestations and detection of preclinical disease. Pediatrics 41:495-503
9. Liu J, Aoki M, Illa I, Wu C, Fardeau M, Angelini C, Serrano C, et al (1998) Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet 20:31-36
10. McNally EM, de Sa Moreira EDD, Bonnemann CG, Lisanti MP, Lidov HGW, Vainzof M, Passos-Bueno MR, et al (1998) Caveolin-3 in muscular dystrophy. Hum Mol Genet 7: 871-877
11. Messina DN, Speer MC, Pericak-Vance MA, McNally EM (1997) Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23. Am J Hum Genet 61:909-917
12. Minetti C, Sotiga F, Bruno C, Scartezzini P, Bado M, Masetti E, Mazzocco M, et al (1998) Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nat Genet 18:365-368
13. Moreira ES, Vainzof M, Marie SK, Sertié AL, Zatz M, Passos-Bueno MR (1997) The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12. Am J Hum Genet 61:151-159
14. Morton NE, Chung CS (1959) Formal genetics of muscular dystrophy. Am J Hum Genet 11:360-379
15. Noguchi S, McNally EM, Ben Othmane K, Hagiwara Y, Mizuno Y, Yoshida M, Yamamoto H, et al (1995) Mutations in the dystrophin-associated protein γ-sarcoglycan in chromosome 13 muscular dystrophy. Science 270:819-822
16. Ott J (1991) Analysis of human genetic linkage. Johns Hopkins University Press, Baltimore
17. Ploughman LM, Boehnke M (1989) Estimating the power of a proposed linkage study for a complex genetic trait. Am J Hum Genet 44:543-551
18. Schneiderman LJ, Sampson WI, Schoene WC, Haydon GB (1969) Genetic studies of a family with two unusual autosomal dominant conditions: muscular dystrophy and Pelger-Huet anomaly. Am J Med 46:380-393
19. Shokeir MHK, Kobrinski NL (1976) Autosomal recessive muscular dystrophy in Manitoba Hutterites. Clin Genet 9: 197-202
20. Speer MC, Gilchrist JM, Chutkow JG, McMichael R, Westbrook CA, Stajich JM, Jorgenson EM, et al (1995) Evidence for locus heterogeneity in autosomal dominant limb-girdle muscular dystrophy. Am J Hum Genet 57:1371-1376
21. Speer MC, Yamaoka LH, Gilchrist JH, Gaskell CP, Stajich JM, Vance JM, Kazantsev A, et al (1992) Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: linkage of an autosomal dominant form to chromosome 5q. Am J Hum Genet 50:1211-1217
22. Vance JM (1998) The collection of biological samples for DNA analysis. In: Haines JL, Pericak-Vance MA (eds) Design and implementation of mapping studies for complex human diseases, Wiley & Sons, New York
23. van der Kooi AJ, van Meegen M, Ledderhof TM, McNally EM, de Visser M, Bolhuis PA (1997) Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21. Am J Hum Genet 60:891-895
24. Weeks DE, Sobel E, O'Connell JR, Lange K (1995) Computer programs for multilocus haplotyping of general pedigrees. Am J Hum Genet 56:1506-1507
25. Yates JRW, Emery AEH (1985) A population study of adult onset limb-girdle muscular dystrophy. J Med Genet 22: 250-257