DOI: 10.1007/bf00873977. Myotonic dystrophy phenotype without expansion of (CTG)n repeat: An entity distinct from proximal myotonic myopathy (PROMM)?

Myotonic dystrophy phenotype without expansion of (CTG)n repeat: An entity distinct from proximal myotonic myopathy (PROMM)?

10.1007/bf00873977

Crossref journal-article

Springer Science and Business Media LLC

Journal of Neurology (297)

Bibliography

Abbruzzese, C., Krahe, R., Liguori, M., Tessarolo, D., Siciliano, M. J., Ashizawa, T., & Giacanelli, M. (1996). Myotonic dystrophy phenotype without expansion of (CTG)n repeat: An entity distinct from proximal myotonic myopathy (PROMM)? Journal of Neurology, 243(10), 715â721.

Authors 7

Claudia Abbruzzese (first)
Ralf Krahe (additional)
Michele Liguori (additional)
Daniela Tessarolo (additional)
Michael J. Siciliano (additional)
Tetsuo Ashizawa (additional)
Manlio Giacanelli (additional)

References 25 Referenced 22

Andrew SE, Goldberg YP, Kremer B, Squitieri F, Theilmann J, Zeisler J, Telenius H, Adam S, Almquist E, Anvret M (1994) Huntington disease without CAG expansion: phenocopies or errors in assignment? Am J Hum Genet 54: 852?863 / Am J Hum Genet by SE Andrew (1994)
Ashizawa T, Hejtmancik JF, Liu J, Perryman MB, Epstein HF, Koch DD (1992) Diagnostic values of opthalmologic findings in myotonic dystrophy: comparison with risks calculated by haplotype analysis of closely linked RFLP's. Am J Med Genet 42:55?60 (10.1002/ajmg.1320420113) / Am J Med Genet by T Ashizawa (1992)
Brook JD, McCurrach ME, Harley HG, Buckler AJ, Church D, Aburatani H, Hunter K, Stanton VP, Thirion J, Hudson T, Sohn R, Zemelman B, Snell RG, Rundle SA, Crow S, Davies J, Shelbourne P, Buxton J, Jones C, Juvonen V, Johnson K, Harper PS, Shaw DJ, Housman DE (1992) Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member. Cell 68 799?808 (10.1016/0092-8674(92)90154-5) / Cell by JD Brook (1992)
Chomczynski P, Sacchi N (1987) Single-step method of RNA isolation by acid guanidiniumthiocyanate-phenolchloroform extraction. Anal Biochem 162:156?159 (10.1016/0003-2697(87)90021-2) / Anal Biochem by P Chomczynski (1987)
Dubowitz V (1988) Muscle biopsy: a practical approach, 2nd edn. Cold Spring Harbor Laboratory, Cold Spring Harbor, NY / Muscle biopsy: a practical approach by V Dubowitz (1988)
Fu Y, Pizzuti A, Fenwick RG, King J, Rajnarayan S, Dunne PW, Dubel J, Nasser GA, Ashizawa T, Jong P de, Wieringa B, Komeluk R, Perryman MB, Epstein HF, Caskey CT (1992) An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 255:1256?1258 (10.1126/science.1546326) / Science by Y Fu (1992)
Fu Y, Friedman DL, Richards S, Pearlman JA, Gibbs RA, Pizzuti A, Ashizawa T, Perryman MB, Scalato G, Fenwick RG Jr, Caskey CT (1993) Decreased expression of myotonin-protein kinase mRNA and protein in adult form of myotonic dystrophy. Science 260: 235?238. (10.1126/science.8469976) / Science by Y Fu (1993)
Gould RJ, Steeg CN, Eastwood AB, Penn AS, Rowland LP, DeVivo DC (1985) Potentially fatal cardiac dysrhythmia and hyperkalemic periodic paralysis. Neurology 35: 1208?1212 (10.1212/WNL.35.8.1208) / Neurology by RJ Gould (1985)
Griggs RC, Wood DS, the working group on myotonic dystrophy (1989) Criteria for establishing the validity of genetic recombination in myotonic dystrophy. Neurology 39:420?421 (10.1212/WNL.39.3.420) / Neurology by RC Griggs (1989)
Harper PS (1989) Myotonic dystrophy, 2nd edn. Saunders, London / Myotonic dystrophy by PS Harper (1989)
Hofmann-Radvanyi H, Lavedan C, Rabès J, Savoy D, Duros C, Johnson K, Junien C (1993) Myotonic dystrophy: absence of CTG enlarged transcript in congenital forms, and low expression of the normal allele. Hum Mol Genet 2:1263?1266 (10.1093/hmg/2.8.1263) / Hum Mol Genet by H Hofmann-Radvanyi (1993)
Jansen G, Bachner D, Coerwinkel M, Wormskamp N, Hameister H, Wieringa B (1995) Structural organization and developmental expression pattern of the mouse WD-repeat gene DMR-N9 immediately upstream of the myotonic dystrophy locus. Hum Mol Genet 4:843?852 (10.1093/hmg/4.5.843) / Hum Mol Genet by G Jansen (1995)
Krahe R, Ashizawa T, Abbruzzese C, Roeder E, Carango P, Giacanelli M, Funanage VL, Siciliano MJ (1995) Effect of myotonic dystrophy trinucleotide repeat expansion on DMPK transcription and processing. Genomics 28:1?14 (10.1006/geno.1995.1099) / Genomics by R Krahe (1995)
Krahe R, Eckhart M, Oguinniyi AO, Osuntokun BO, Siciliano MJ, Ashizawa T (1995) De novo myotonic dystrophy mutation in a Nigerian kindred. Am J Hum Genet 65:1067?1074 / Am J Hum Genet by R Krahe (1995)
Mahadevan M, Tsilfidis C, Sabourin L, Shutter G, Amemiya C, Jansen G, Neville C, Narang M, Barceló J, O'Hoy K, Leblond S, Earle-Macdonald J, Jong P de, Wieringa B, Korneluk RG (1992) Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene. Science 255:1253?1255 (10.1126/science.1546325) / Science by M Mahadevan (1992)
Mahadevan MS, Foitzik MA, Surh LC, Korneluk RG (1993) Characterization and polymerase chain reaction (PCR) detection of an Alu deletion polymorphism in total linkage disequilibrium with myotonic dystrophy. Genomics 15 446?448 (10.1006/geno.1993.1087) / Genomics by MS Mahadevan (1993)
Medical Research Council (1976) Aids to the investigation of peripheral nerve injuries. Her Majesty' Stationery Office, London / Aids to the investigation of peripheral nerve injuries by Medical Research Council (1976)
Neville CE, Mahadevan MS, Barceló JM, Korneluk RG (1994) High resolution genetic analysis suggests one ancestral predisposing haplotype for the origin of the myotonic dystrophy muta tion. Hum Mol Genet 3:45?51 (10.1093/hmg/3.1.45) / Hum Mol Genet by CE Neville (1994)
Novelli G, Gennarelli M, Zelano G, Pizzuti A, Fattorini C, Caskey CT, Dallapiccola B (1993) Failure in detecting mRNA transcripts from the mutated allele in myotonic dystrophy muscle. Biochem Mol Biol Int 29: 291?297 / Biochem Mol Biol Int by G Novelli (1993)
Ricker K, Koch MC, Lehmann-Horn F, Pongratz D, Otto M, Heine R, Moxley RT (1994) Proximal myotonic myotpathy: a new dominant disorder with myotonia, muscle weakness, and cataracts. Neurology 44:1448?1452 (10.1212/WNL.44.8.1448) / Neurology by K Ricker (1994)
Ricker K, Koch MC, Lehmann-Horn F, Pongratz D, Speich N, Reiners K, Schneider C, Moxley RT III (1995) Proximal myotonic myopathy: clinical features of a multisystem disorder similar to myotonic dystrophy. Arch Neurol 52:25?31 (10.1001/archneur.1995.00540250029009) / Arch Neurol by K Ricker (1995)
Sabouri LA, Mahadevan MS, Narang M, Lee DSC, Surh LC, Komeluk RG (1993) Effect of myotonic dystrophy (DM) mutation mRNA levels of the DM gene. Nat Genet 4:233?238 (10.1038/ng0793-233) / Nat Genet by LA Sabouri (1993)
Streib EW (1987) AAEE minimonograph 27: differential diagnosis of myotonic syndromes. Muscle Nerve 10: 603?615 (10.1002/mus.880100704) / Muscle Nerve by EW Streib (1987)
Taylor HP, Schwartzbach CJ, Gilbert JR, Koza-Taylor PH, Speer MC, Stajich JM, Krahe R, Siciliano MJ, Roses AD (1993) Myotonic dystrophy in an affected family member inheriting affected parent's normal chromosome. Am J Hum Genet 53 [Suppl]: 1238 / Am J Hum Genet by HP Taylor (1993)
Thornton CA, Griggs R, Moxley RT (1994) Myotonic dystrophy with no trinucleotide repeat expansion. Ann Neurol 35:269?272 (10.1002/ana.410350305) / Ann Neurol by CA Thornton (1994)

Dates

Type	When
Created	20 years, 8 months ago (Dec. 24, 2004, 2:23 p.m.)
Deposited	6 years, 4 months ago (April 26, 2019, 7:26 p.m.)
Indexed	1 year, 5 months ago (March 27, 2024, 7:53 a.m.)
Issued	29 years, 7 months ago (Jan. 1, 1996)
Published	29 years, 7 months ago (Jan. 1, 1996)
Published Print	29 years, 7 months ago (Jan. 1, 1996)

Funders 0

None

BibTeX

@article{Abbruzzese_1996, title={Myotonic dystrophy phenotype without expansion of (CTG)n repeat: An entity distinct from proximal myotonic myopathy (PROMM)?}, volume={243}, ISSN={1432-1459}, url={http://dx.doi.org/10.1007/bf00873977}, DOI={10.1007/bf00873977}, number={10}, journal={Journal of Neurology}, publisher={Springer Science and Business Media LLC}, author={Abbruzzese, Claudia and Krahe, Ralf and Liguori, Michele and Tessarolo, Daniela and Siciliano, Michael J. and Ashizawa, Tetsuo and Giacanelli, Manlio}, year={1996}, pages={715–721} }

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  "resource": {
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