Leiden Muscular Dystrophy pages

References

(last modified August 3, 1999)


Abbs, S. and Bobrow, M. (1992). Analysis of quantitative PCR for the diagnosis of deletion and duplication carriers in the dystrophin gene. J. Med. Genet. 29:191-196.

Abbs, S., Roberts, R.G., Mathew, C.G., Bentley, D.R., and Bobrow, M. (1990). Accurate assessment of intragenic recombination frequency within the Duchenne muscular dystrophy gene. Genomics 7:602-606.

Abbs, S., Yau, S.C., Mathew, C.G., and Bobrow, M. (1991). A convenient multiplex PCR system for the detection of dystrophin gene deletions: a comparative analysis with cDNA hybridisation shows mistypings by both methods. J. Med. Genet. 28:304-311.

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Adams, M.E., Butler, M.H., Dwyer, T.M., Peters, M.F., Murnane, A.A., and Froehner, S.C. (1993). Two forms of mouse syntrophin, a 5 kd dystrophin-associated protein, differ in primary structure and tissue distribution. Neuron 11:531-540.

Ahn, A.H. and Kunkel, L.M. (1993). The structural and functional diversity of dystrophin. Nat. Genet. 3:283-291.

Ahn, A.H. and Kunkel, L.M. (1995). Syntrophin binds to an alternatively spliced exon of dystrophin. J. Cell Biol. 128:363-371.

Akalin, N., Zietkiewicz, E., Makalowski, W., and Labuda, D. (1994). Are CpG sites mutation hot spots in the dystrophin gene ? Hum. Mol. Genet. 3:1425-1426.

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Anand, R., Honeycombe, J., Whittaker, P.A., Elder, J.K., and Southern, E.M. (1988). Clones from an 840-kb fragment containing the 5' region of the DMD locus enriched by Pulsed Field Gel Electrophoresis. Genomics 3:177-186.

Anderson, M.S. and Kunkel, L.M. (1992). Dystrophin mRNA in lyophilized tissue. Nature 335:778

Arahata, K., Hoffman, E.P., Kunkel, L.M., Ishiura, S., Tsukahara, T., Ishihara, T., Sunohara, T., Nonaka, I., Ozawa, E., and Sugita, H. (1989). Dystrophin diagnosis: comparison of dystrophin abnormalities by immunofluorescent and immunoblot analyses. Proc. natl. Acad. Sci. USA 86:7154-7158.

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Bakker, E., Bonten, E.J., Veenema, H., Den Dunnen, J.T., Grootscholten, P.M., Van Ommen, G.J.B., and Pearson, P.L. (1989). Prenatal diagnosis of Duchenne muscular dystrophy: a three-year experience in a rapidly evolving field. J. Inherited Metab. Dis. 12:174-190.

Bakker, E., Hofker, M.H., Goor, N., Mandel, J.L., Wrogemann, K., Davies, K.E., Kunkel, L., Willard, H.F., Fenton, W.A., Sandkuyl, L., Majoor-Krakauer, D., Van Essen, A.J., Jahoda, M.G.J., Sachs, E., Van Ommen, G.J.B., and Pearson, P.L. (1985). Prenatal diagnosis and carrier detection of Duchenne Muscular Dystrophy with closely linked RFLPs. Lancet i:655-658.

Bakker, E., Kneppers, A.L.J., Voorhoeve, E., Deutz-Terlouw, P., Brocker-Vriends, A.H.J.T., and Van Ommen, G.J.B. (1991). Advances and pitfalls in prenatal diagnosis: five years DNA-analysis for Duchenne and Becker muscular dystrophy and hemophilia. In: Muscular dystrophy research. (C. Angelini, G.A. Danieli, and D. Fontanari, Eds). Amsterdam: Elsevier Science Publishers B.V. pp. 67-76.

Bakker, E. and Pearson, P.L. (1986). Mutation of the Duchenne muscular dystrophy gene associated with meiotic recombination. Clin. Genet. 30:347-349.

Bakker, E., Van Broeckhoven, C., Bonten, E.J., Van De Vooren, M.J., Veenema, H., Van Hul, W., Van Ommen, G.J.B., Vandenberghe, A., and Pearson, P.L. (1987). Germline Mosaicism and Duchenne Muscular Dystrophy mutations. Nature 329:554-556.

Bakker, E., Veenema, H., Den Dunnen, J.T., Van Broeckhoven, C., Grootscholten, P.M., Bonten, E.J., Van Ommen, G.J.B., and Pearson, P.L. (1989). Germinal mosaicism increases the recurrence risk for "new" Duchenne muscular dystrophy mutations. J. Med. Genet. 26:553-559.

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Barbieri, A.M., Soriani, N., Ferlini, A., Michelato, A., Ferrari, M., and Carrera, P. (1996). Seven novel additional small mutations and a new alternative splicing in the human dystrophin gene detected by heteroduplex analysis and restricted RT-PCR heteroduplex analysis of illegitimate transcripts. Eur. J. Hum. Genet. 4:183-187.

Barbieri, A.M., Soriani, N., Tubiello, G.M., Ferrari, M., and Carrera, P. (1995). A nonsense mutation (Gln-637-Term) in exon 17 of the dystrophin gene detected by heteroduplex analysis. Hum. Genet. 96:343-344.

Barnea, E., Zuk, D., Simantov, R., Nudel, U., and Yaffe, D. (1990). Specificity of expression of the muscle and brain dystrophin gene promoters in muscle and brain cells. Neuron 5:881-888.

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Bartley, J.A., Patil, S., Davenport, S., Goldstein, D., and Pickens, J. (1986). Duchenne muscular dystrophy, glycerol kinase deficiency and adrenal insufficiency associated with Xp21 interstitial deletion. J. Pediatr. 108:189-192.

Bartolo, C., Papp, A.C., Snyder, P.J., Sedra, M.S., Burghes, A.H.M., Hall, C.D., Mendell, J.R., and Prior, T.W. (1996). A novel splice site mutation in a becker muscular dystrophy patient. J Med Genet 33:324-327.

Bashir, R., Keers, S., Strachan, T., Passos Bueno, R., Zatz, M., Weissenbach, J., Le Paslier, D., Meisler, M., and Bushby, K. (1996). Genetic and physical mapping at the limb-girdle muscular dystrophy locus (LGMD2B) on chromosome 2p. Genomics 33:46-52.

Bashir, R., Strachan, T., Keers, S., Stephenson, A., Mahjneh, I., Marconi, G., Nashef, L., and Bushby, K.M. (1994). A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p. Hum. Mol. Genet. 3:455-457.

Baumbach, L.A., Chamberlain, J.S., Ward, P.A., Farwell, N.J., and Caskey, C.T. (1989). Molecular and clinical correlations of deletions leading to Duchenne and Becker muscular dystrophies. Neurol. 465-474.

Baumbach, L.L., Chamberlain, J.S., Ward, P.A., Farwell, N.J., and Caskey, C.T. (1989). Molecular and clinical correlations of deletions leading to Duchenne and Becker muscular dystrophies. Neurol. 39:465-474.

Bebchuk, K.G., Bulman, D.E., D'Souza, V.N., Worton, R.G., and Ray, P.N. (1993). Genomic organization of exons 22 to 25 of the dystrophin gene. Hum. Mol. Genet. 2:593-594.

Beggs, A.H. (1994). Multiplex PCR for identifying dystrophin gene deletions. In: Current protocols in Human Genetics. Anonymouspp. 9.3.1-9.3.17.

Beggs, A.H., Hoffman, E.P., Snyder, J.R., Arahata, K., Specht, L., Shapiro, F., Angelini, C., Sugita, H., and Kunkel, L.M. (1991). Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies. Am. J. Hum. Genet. 49:54-67.

Beggs, A.H., Koenig, M., Boyce, F.M., and Kunkel, L.M. (1990). Detection of 98-percent DMD/BMD gene deletions by polymerase chain reaction. Hum. Genet. 86:45-48.

Beggs, A.H. and Kunkel, L.M. (1990). A polymorphic CACA repeat in the 3' untranslated region of dystrophin. Nucl. Acids Res. 18:1931

Beggs, A.H., Neumann, P.E., Arahata, K., Arikawa, I., Nonaka, I., Anderson, M.S., and Kunkel, L.M. (1992). Possible influences on the expression of X chromosome-linked dystrophin abnormalities by heterozygosity for autosomal recessive Fukuyama congenital muscular dystrophy. Proc. natl. Acad. Sci. USA 89:6230-627.

Bentley-Lawrence, J., Singer, R.H., and McNeil, J.A. (1991). Interphase and metaphase resolution of different distances within the human dystrophin gene. Science 249:928-932.

Bertelson, C.J., Bartley, J.A., Monaco, A.P., Colletti-Feener, C., Fischbeck, K.H., and Kunkel, L.M. (1986). Localisation of Xp21 meiotic exchange points in Duchenne Muscular Dystrophy families. J. Med. Genet. 23:531-537.

Bettecken, T., Aissani, B., Muller, C.R., and Bernardi, G. (1992). Compositional mapping of the human dystrophin-encoding gene. Gene 122:329-335.

Bettecken, T. and Muller, C.R. (1989). Identification of a 220-kb insertion into the Duchenne gene in a family with an atypical course of muscular dystrophy. Genomics 4:592-596.

Beutler, E., McKusick, V.A., Motulsky, A.G., Scriver, C.R., and Hutchinson, F. (1996). Mutation nomenclature: nicknames, systematic names and, unique identifiers. Hum. Mutat. 8:203-206.

Bieber, F.R., Hoffman, E.P., and Amos, J.A. (1989). Dystrophin analysis in Duchenne muscular dystrophy: use in fetal diagnosis and in genetic counseling. Am. J. Hum. Genet. 45:362-367.

Bies, R.D., Phelps, S.F., Cortez, M.D., Roberts, R., Caskey, C.T., and Chamberlain, J.S. (1992). Human and murine dystrophin mRNA transcripts are differentially expressed during skeletal muscle, heart, and brain development. Nucl. Acids Res. 20:1725-1731.

Blake, D.R., Love, D.R., Tinsley, J., Morris, G.E., Turley, H., Gatter, K., Dickson, G., Edwards, Y.H., and Davies, K.E. (1992). Characterization of a 4.8 kb transcript from the Duchenne muscular dystrophy locus expressed in Schwannoma cells. Hum. Mol. Genet. 1:103-109.

Blonden, L.A.J., Den Dunnen, J.T., Van Paassen, H.M.B., Wapenaar, M.C., Grootscholten, P.M., Ginjaar, H.B., Bakker, E., Pearson, P.L., and Van Ommen, G.J.B. (1989). High resolution deletion breakpoint mapping in the DMD-gene by whole cosmid hybridization. Nucl. Acids Res. 17:5611-5621.

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Blonden, L.A.J., Terwindt, G.M., Den Dunnen, J.T., and Van Ommen, G.J.B. (1994). A polymorphic STS in intron 44 of the dystrophin gene. Hum. Genet. 93:479-480.

Bodrug, S.E., Burghes, A.H.M., Ray, P.M., and Worton, R.G. (1989). Mapping four translocation breakpoints within the Duchenne muscular dystrophy gene. Genomics 4:101-104.

Bodrug, S.E., Holden, J.J.A., Ray, P.N., and Worton, R.G. (1991). Molecular analysis of X-autosome translocations in females with Duchenne muscular dystrophy. EMBO J. 10:3931-3939.

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Bonilla, E., Schmidt, B., Samitt, C.E., Miranda, A.F., Hays, A.P., de Oliveira, A.B.S., Chang, H.W., Servidei, S., Ricci, E., Younger, D.S., and Dimauro, S. (1988). Normal and dystrophin-deficient muscle fibers in carriers of the gene for Duchenne muscular dystrophy. Am. J. Pathol 133:440-445.

Bonnemann, C.G., Modi, R., Noguchi, S., Mizuno, Y., Yoshida, M., Gussoni, E., McNally, E.M., Duggan, D.J., Angelini, C., Hoffman, E.P., Ozawa, E., and Kunkel, L.M. (1995). beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Nat. Genet. 11:266-273.

Bonnemann, C.G., Passos-Bueno, M.R., McNally, E.M., Vainzof, M., Moreira, E.S., Noguchi, S., Ozawa, E., Zatz, M., and Kunkel, L.M. (1996). Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cuase severe lin\mg-girdle muscular dystrophy tyep 2E (LGMD 2E). Hum. Mol. Genet. 5:1953-1961.

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Boyd, Y. and Buckle, V.J. (1986). Cytogenetic heterogeneity of translocations associated with Duchenne muscular dystrophy. Clin. Genet. 29:108-115.

Brockdorff, N., Cross, G.S., Cavanna, J.S., Fisher, E.M., Lyon, M.F., Davies, K.E., and Brown, S.D. (1987). The mapping of a cDNA from the human X-linked Duchenne muscular dystrophy gene to the mouse X chromosome. Nature 328:166-168.

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