Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: Clinical description and gene localization to 5q31

American Journal of Human Genetics

Volumn 63, Issue 6, 1998, Pages 1732-1742

  Feit, Howard ^a   Silbergleit, Alice ^a   Schneider, Lori B ^a   Gutierrez, Jorge A ^a   Fitoussi, Reine Paule ^b   Réyès, Cécile ^b   Rouleau, Guy A ^c   Brais, Bernard ^c   Jackson, Charles E ^a   Beckmann, Jacques S ^b   Seboun, Eric ^b  

^a HENRY FORD HOSPITAL   (United States)

^b CNRS   (France)

^c MONTREAL GENERAL HOSPITAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 5Q; CLINICAL ARTICLE; CONTROLLED STUDY; DISTAL MYOPATHY; FEMALE; FOOT; GENE LOCATION; HAND; HUMAN; MALE; MUSCLE WEAKNESS; PHARYNX; PRIORITY JOURNAL; VOCAL CORD;

EID: 0032471403     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302166     Document Type: Article

References (33)

1. Askanas V, Engel WK (1998) Newest approaches to diagnosis and pathogenesis of sporadic inclusion-body myositis and hereditary inclusion-body myopathies, including molecular-pathologic similarities to Alzheimer disease. In: Askanas V, Serratrice G, Engel WK (eds) Inclusion-body myositis and myopathies. Cambridge University Press, Cambridge, pp 3-78
2. Askanas V, Serratrice G, Engel WK (eds) (1998) Inclusion-body myositis and myopathies. Cambridge University Press, Cambridge
3. Bartoloni L, Horrigan SK, Zhang Y, Viles K, Gilchrist JM, Vance JM, Yamaoka LH, et al. (1997) Limb-girdle muscular dystrophy 1A: refinement of the 5q31 localization and a physical and genetic map of the interval. Am J Hum Genet Suppl 61:A267
4. Bashir R, Strachan T, Keers S, Stephenson A, Mahjneh I, Marconi G, Nashef L, et al. (1994) A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p. Hum Mol Genet 3:455-457
5. Bejaoui K, Hirabayashi K, Hentati F, Haines JL, Ben Hamida C, Belal S, Miller RG, et al. (1995) Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) to chromosome 2p12. Neurology 45:768-772
6. Brais B, Bouchard JP, Xie YG, Rochefort DL, Chretien N, Tome FM, Lafreniere RG, et al. (1998) Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy, Nat Genet 18:164-167
7. Brooke MH (1986) A clinician's view of neuromuscular diseases. Williams & Wilkins, Baltimore, pp 174-178
8. Brugada R, Tapscott T, Czernuszewicz GZ, Marian AJ, Iglesias A, Mont L, Brugada J, et al. (1997) Identification of a genetic locus for familial atrial fibrillation. N Engl J Med 336: 905-911
9. Carmi R, Rokhlina T, Kwitek-Black AE, Elbedour K, Nishimura D, Stone EM, Sheffield VC (1995) Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15. Hum Mol Genet 4:9-13
10. Damji KF, Gallione CJ, Allingham RR, Slotterbeck B, Guttmacher AE, Pasyk KA, Vance JM, et al (1998) Quantitative DNA pooling to increase the efficiency of linkage analysis in autosomal dominant disease. Hum Genet 102:207-212
11. Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, et al. (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:152-154
12. Fardeau M, Tome F (1998) Inclusion body myopathies. In: Askanas V, Serratrice G, Engel WK (eds) Inclusion-body myositis and myopathies, Cambridge University Press, Cambridge, pp 252-260
13. Griggs RC, Markesbery WR (1994) Distal myopathies. In: Engel AG, Franzini-Armstrong C (eds) Myology basic and clinical. McGraw-Hill, New York, pp 1246-1257
14. Haravuori H, Makela-Bengs P, Udd B, Partanen J, Pulkkinen L, Somer H, Peltonen L (1998) Assignment of the tibial muscular dystrophy locus to chromosome 2q31. Am J Hum Genet 62:620-626
15. Ikeuchi T, Asaka T, Saito M, Tanaka H, Higuchi S, Tanaka K, Saida K, et al. (1997) Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9. Ann Neurol 41:432-437
16. Illarioshkin SN, Ivanova-Smolenskaya IA, Tanaka H, Vereshchagin NV, Markova ED, Poleshchuk VV, Lozhnikova SM, et al. (1996) Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy. Brain 119:1895-1909
17. Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES (1996) Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet 58:1347-1363
18. Laing NG, Laing BA, Meredith C, Wilton SD, Robbins P, Honeyman K, Dorosz S, et al. (1995) Autosomal dominant distal myopathy: linkage to chromosome 14. Am J Hum Genet 56:422-427
19. Nielsen MS, Petersen CM, GliemannJ, Madsen P (1996) Cloning and sequencing of a human cDNA encoding a putative transcription factor containing a bromodomain. Biochim Biophys Acta 1306:14-16
20. Nigro V, de Sa Moreira E, Piluso G, Vainzof M, Belsito A, Politano L, Puca AA, et al. (1996) Autosomal recessive limbgirdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene. Nat Genet 14:195-198.
21. Ott J (1989) Computer-simulation methods in human linkage analysis. Proc Natl Acad Sci USA 86:4175-4178
22. Passos-Bueno MR, Moreira ES, Vainzof M, Marie SK, Zatz M (1996) Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD. Hum Mol Genet 5:815-820
23. Perlin MW, Lancia G, Ng SK (1995) Toward fully automated genotyping: genotyping microsatellite markers by deconvolution. Am J Hum Genet 57:1199-1210
24. Schaffer AA (1996) Faster linkage analysis computations for pedigrees with loops or unused alleles. Hum Hered 46: 226-235
25. Sheffield VC, Carmi R, Kwitek-Black A, Rokhlina T, Nishimura D, Duyk GM, Elbedour K, et al. (1994) Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping. Hum Mol Genet 3:1331-1335
26. Speer MC, Gilchrist JM, Stajich JM, Gaskell PC, Westbrook CA, Horrigan SK, Bartoloni L, et al (1998) Evidence for anticipation in autosomal dominant limb-girdle muscular dystrophy. J Med Genet 35:305-308
27. Tome FMS, Fardeau M (1994) Oculopharyngeal muscular dystrophy. In: Engel AG, Franzini-Armstrong C (eds) Myology basic and clinical. McGraw-Hill, New York, pp 1233-1245
28. Vahava O, Morell R, Lynch ED, Weiss S, Kagan ME, Ahituv N, Morrow JE, et al. (1998) Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans. Science 279:1950-1954
29. Vignal A, Gyapay G, Hazan J, Nguyen S, Dupraz C, Cheron N, Becuwe N, et al. (1993) A non-radioactive multiplex procedure for genotyping of microsatellite markers. In: Adolph KW (ed) Methods in molecular genetics: gene and chromosome analysis. Academic Press, San Diego, 211-221
30. Weeks DE, Ott J, Lathrop GM (1990) SLINK: a general simulation program for linkage analysis. Am J Hum Genet Suppl 47:A204
31. Weiler T, Greenberg CR, Nylen E, Halliday W, Morgan K, Eggertson D, Wrogemann K (1996) Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype. Am J Hum Genet 59:872-878
32. Weissenbach J, Gyapay G, Dib C, Vignal A, Morissette J, Millasseau P, Vaysseix G, et al. (1992) A second-generation linkage map of the human genome. Nature 359:794-801
33. Young ID, Harper PS (1980) Hereditary distal spinal muscular atrophy with vocal cord paralysis. J Neurol Neurosurg Psychiatry 43:413-418