Literatur
- 1
Steinert H.
Über das klinische und anatomische Bild des Muskelschwunds der Myotoniker.
Dtsch Z Nervenheilkd.
1909;
37
58-104
- 2
Ricker K, Koch M C, Lehmann-Horn F. et al .
Proximal myotonic myopathy: a new dominant disorder with myotonia, muscle weakness,
and cataracts.
Neurology.
1994;
44
448-1452
- 3
Brook J D, McCurrach M E, Harley H G. et al .
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.
1992;
68
799-808
- 4
Osborne R J, Thornton C A.
RNA-dominant diseases.
Hum Mol Genet.
2006;
15
162-169
- 5
Liquori C L, Ricker K, Moseley M L. et al .
Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9.
Science.
2001;
293
864-867
- 6
Schneider C, Ziegler A, Ricker K. et al .
Proximal myotonic myopathy: evidence for anticipation in families with linkage to
chromosome 3q.
Neurology.
2000;
55
383-388
- 7
Day J W, Ricker K, Jacobsen F J. et al .
Myotonic dystrophy type 2: Molecular, diagnostic and clinical spectrum.
Neurology.
2003;
60
657-664
- 8 Harper P S. Myotonic Dystrophy. London; W. B. Saunders 2001
- 9 Harper P, Monckton D G.
Myotonic dystrophy. In: Engel AG, Franzini-Armstrong C, eds Myology. 3. Auflage. New York; Mc Graw-Hill
2004
- 10
Neumayr A, Kress W, Grimm T.
Frequency of DM1 and DM2 in Germany.
Medgen.
2009;
21
438
- 11
Schoser B.
Myotone Dystrophien – Aktueller Stand der molekularen Pathogenese.
Akt Neurol.
2005;
2
324-330
- 12
Groh W J, Groh M R, Saha C. et al .
Electrocardiographic Abnormalities and Sudden Death in Myotonic Dystrophy Type 1.
N Engl J Med.
2008;
358
2688-2693
- 13
Lazarus A, Varin J, Babuty D. et al .
Long-term follow-up of arrhythmias in patients with myotonic dystrophy treated by
pacing.
J Am Coll Cardiol.
2002;
40
1645-1652
- 14
Schoser B, Ricker K, Schneider-Gold C. et al .
Sudden cardiac death in myotonic dystrophy type 2.
Neurology.
2004;
63
2402-2404
- 15
Schara U, Schoser B GH.
Myotonic Dystrophies type 1 and 2 – a summary of current aspects.
Semi Pediat Neurol.
2006;
13
71-79
- 16
Schoser B.
Myotone Dystrophien – Phänotypen, Pathogenese, Diagnostik, und Therapie.
Nervenheilkunde.
2007;
26
74-78
- 17 Harper P S, van Engelen B, Eymard B. et al .Myotonic dystrophy: present management,
future therapy. Oxford; Oxford University Press 2004
- 18
Rudnick-Schöneborn S, Schneider-Gold C, Raabe U. et al .
Outcome and effect of pregnancy in myotonic dystrophy type 2.
Neurology.
2006;
66
579-580
- 19
George A, Schneider-Gold C, Zier S. et al .
Musculoskeletal pain in patients with myotonic dystrophy type 2.
Arch Neurol.
2004;
61
1938-1942
- 20
Tieleman A A, den Broeder A A, van den Logt A E. et al .
Strong association between myotonic dystrophy type 2 and autoimmune disease.
J Neurol Neurosurg Psychiatry.
2009;
80
1293-1295
- 21
Udd B, Meola G, Krahe R. et al .
DM2 / PROMM and other myotonic dystrophies – report of the 140th ENMC workshop with
guidelines on management.
Neuromuscul Disord.
2006;
16
403-413
- 22
Lindeman E, Leffers P, Spaans F. et al .
Strength training in patients with myotonic dystrophy and hereditary motor and sensory
neuropathy: a randomized clinical trial.
Arch Phys Med Rehabil.
1995;
76
612-620
- 23
Walter M C, Reilich P, Lochmüller H. et al .
Creatine monohydrate in myotonic dystrophy: a double-blind, placebo-controlled clinical
study.
J Neurol.
2002;
249
1717-1722
- 24
Schneider-Gold C, Beck M, Wessig C. et al .
Creatine monohydrate in DM2 / PROMM. A double blind placebo-controlled clinical study.
Neurology.
2003;
60
500-502
- 25
Tarnopolsky M, Mahoney D, Thompson T. et al .
Creatine monohydrate supplementation does not increase muscle strength, lean body
mass or phosphocreatine in patients with myotonic dystrophy type 1.
Muscle Nerve.
2004;
29
51-58
- 26 Schneider-Gold C.
Myotone Dystrophien und nicht dystrophe Myotonien. In: Diener HC, Putzki N, Berlit P, Hrsg Leitlinien für Diagnostik und Therapie (4.
überarbeitete Auflage). Stuttgart; Thieme 2007: 555-564
- 27
Logigian E L, Martens W B, Moxley IV R T. et al .
Mexiletine is an effective antimyotonia treatment in myotonic dystrophy type 1.
Neurology.
2010;
74
1441-1448
- 28
Damian M S, Gerlach A, Schmidt F. et al .
Modafinil for excessive daytime sleepiness in myotonic dystrophy.
Neurology.
2001;
56
794-796
- 29
Bhakta D, Lowe M R, Groh W J.
Prevalence of structural cardiac abnormalities in patients with myotonic dystrophy
type I.
Am Heart J.
2004;
147
224-247
- 30
Laurent V, Pellieux S, Carcio P. et al .
Mortality in myotonic dystrophy patients in the area of prophylactic pacing advices.
Int J Cardiology.
2010 Mar 11 (epub ahead of print);
- 31
Wahbi K, Meune C, Bécane H M. et al .
Left ventricular dysfunction and cardiac arrhythmias are frequent in type 2 myotonic
dystrophy: a case control study.
Neuromuscul Disord.
2009;
19
468-472
- 32
Kirzinger L, Schmidt A, Kornblum C. et al .
Side effects of anesthesia in DM2 as compared to DM1: a comparative retrospective
study.
Eur J Neurol.
2010;
17
842-845
- 33
Mulders S AM, van Engelen B GM, Wieringa B. et al .
Molecular therapy in myotonic dystrophy: focus on RNA gain-of-function.
Hum Mol Genet.
2010;
19
R90-97
- 34
Thompson R, Schoser B, Monckton D G. et al .
Patient Registries and Trial Readiness in Myotonic Dystrophy – TREAT-NMD / Marigold
International Workshop Report.
Neuromuscul Disord.
2009;
12
860-866
- 35
Wheeler T M.
Myotonic dystrophy: therapeutic strategies for the future.
Neurotherap.
2008;
5
592-600
PD Dr. Christiane Schneider-Gold
St. Josef-Hospital Ruhr-Universität Bochum, Neurologie
Gudrunstr. 56
44807 Bochum
Email: Christiane.Schneider-Gold@rub.de
