共 8 条
[1]
Brook JD, McCurrach ME, Harley HG, Buckler AJ, Church D, Aburatani H, Hunter K, Stanton VP, Thirion JP, 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, 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, pp. 799-808, (1992)
[2]
Fu YH, Pizzuti A, Fenwick RG, King J, Rajnarayan S, Dunne PW, Dubel J, Nasser GA, Ashizawa T, de Jong P, Wieringa B, Korneluk R, Perryman MB, Epstein HF, Caskey CT, An unstable triplet repeat in a gene related to myotonic muscular dystrophy, Science, 255, pp. 1256-1258, (1992)
[3]
Harper PS, Myotonic Dystrophy, (1989)
[4]
Lacomis D, Chad DA, Smith TW, Proximal weakness as the premary manifestation of myotonic dystrophy in older adults, Muscle Nerve, 17, pp. 687-688, (1994)
[5]
Moxley RT, Myotonic dystrophy, Handbook of Clinical Neurology, 18, pp. 209-259, (1992)
[6]
Ricker K, Koch MC, Lehmann-Horn F, Pongratz D, Otto M, Heine R, Moxley RT, Proximal myotonic, myopathy: a new dominant disorder with myotonia, muscle weakness and cataracts, Neurology, 44, pp. 1448-1452, (1994)
[7]
Shaw DJ, Meredith AL, Sarfarazi M, Harley HG, Huson SM, Brook JD, Bufton L, Litt M, Mohandas T, Harper PS, Regional localization and linkage relationships of seven RFLPs and myotonic dystrophy on chromosome 19, Hum Genet, 74, pp. 262-266, (1986)
[8]
Thornton CA, Griggs RC, Moxley RT, Myotonic dystrophy with no trinucleotide repeat expansion, Ann Neurol, 35, pp. 269-272, (1994)