Myotonic dystrophies - how many are there?

被引：4

作者：

Mastaglia, FL ^{[1
]}

机构：

[1] Queen Elizabeth II Med Ctr, Dept Neurol, Nedlands, WA 6009, Australia

[2] Univ Western Australia, Dept Med, Nedlands, WA 6009, Australia

[3] Australian Neuromuscular Res Inst, Ctr Neuromuscular & Neurol Disorders, Nedlands, WA, Australia

来源：

CURRENT OPINION IN NEUROLOGY | 1999年 / 12卷 / 05期

关键词：

D O I：

10.1097/00019052-199910000-00001

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

[No abstract available]

引用

页码：491 / 492

页数：2

共 28 条

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

Abbruzzese, C ;

Krahe, R ;

Liguori, M ;

Tessarolo, D ;

Siciliano, MJ ;

Ashizawa, T ;

Giacanelli, M .

JOURNAL OF NEUROLOGY, 1996, 243 (10) :715-721

[2] A NOVEL HOMEODOMAIN-ENCODING GENE IS ASSOCIATED WITH A LARGE CPG ISLAND INTERRUPTED BY THE MYOTONIC-DYSTROPHY UNSTABLE (CTG)(N) REPEAT [J].

BOUCHER, CA ;

KING, SK ;

CAREY, N ;

KRAHE, R ;

WINCHESTER, CL ;

RAHMAN, S ;

CREAVIN, T ;

MEGHJI, P ;

BAILEY, MES ;

CHARTIER, FL ;

BROWN, SD ;

SICILIANO, MJ ;

JOHNSON, KJ .

HUMAN MOLECULAR GENETICS, 1995, 4 (10) :1919-1925

[3] GENETIC HETEROGENEITY FOR DYSTROPHIA MYOTONICA [J].

BUNDEY, S ;

CARTER, CO .

JOURNAL OF MEDICAL GENETICS, 1972, 9 (03) :311-&

[4] DETECTION OF AN UNSTABLE FRAGMENT OF DNA SPECIFIC TO INDIVIDUALS WITH MYOTONIC-DYSTROPHY [J].

BUXTON, J ;

SHELBOURNE, P ;

DAVIES, J ;

JONES, C ;

VANTONGEREN, T ;

ASLANIDIS, C ;

DEJONG, P ;

JANSEN, G ;

ANVRET, M ;

RILEY, B ;

WILLIAMSON, R ;

JOHNSON, K .

NATURE, 1992, 355 (6360) :547-548

[5] Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2) [J].

Day, JW ;

Roelofs, R ;

Leroy, B ;

Pech, I ;

Benzow, K ;

Ranum, LPW .

NEUROMUSCULAR DISORDERS, 1999, 9 (01) :19-27

[6] AN UNSTABLE TRIPLET REPEAT IN A GENE RELATED TO MYOTONIC MUSCULAR-DYSTROPHY [J].

FU, YH ;

PIZZUTI, A ;

FENWICK, RG ;

KING, J ;

RAJNARAYAN, S ;

DUNNE, PW ;

DUBEL, J ;

NASSER, GA ;

ASHIZAWA, T ;

DEJONG, P ;

WIERINGA, B ;

KORNELUK, R ;

PERRYMAN, MB ;

EPSTEIN, HF ;

CASKEY, CT .

SCIENCE, 1992, 255 (5049) :1256-1258

[7]

GAMEZ J, 1999, J NEUROL, V246, P1

[8]

GOURDON G, 1998, NEUROMUSCULAR DISORD, V8, P432

[9] EXPANSION OF AN UNSTABLE DNA REGION AND PHENOTYPIC VARIATION IN MYOTONIC-DYSTROPHY [J].

HARLEY, HG ;

BROOK, JD ;

RUNDLE, SA ;

CROW, S ;

REARDON, W ;

BUCKLER, AJ ;

HARPER, PS ;

HOUSMAN, DE ;

SHAW, DJ .

NATURE, 1992, 355 (6360) :545-546

[10]

Harper P.S., 1989, MYOTONIC DYSTROPHY

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