Myotonic Dystrophy

被引：255

作者：

Thornton, Charles A. ^{[1
]}

机构：

[1] Univ Rochester, Med Ctr, Ctr RNA Biol, Ctr Neural Dev & Dis,Dept Neurol, Rochester, NY 14642 USA

来源：

NEUROLOGIC CLINICS | 2014年 / 32卷 / 03期

基金：

美国国家卫生研究院;

关键词：

Myotonic dystrophy; Electrophysiology; Myopathy; Expanded DNA repeat; PRE-MESSENGER-RNA; SKELETAL-MUSCLE; CTG REPEAT; TRINUCLEOTIDE REPEAT; RIBONUCLEAR INCLUSIONS; CEREBRAL INVOLVEMENT; MUSCULAR-DYSTROPHY; DAYTIME SLEEPINESS; BINDING-PROTEIN; SMALL MOLECULES;

D O I：

10.1016/j.ncl.2014.04.011

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Myotonic dystrophy (dystrophia myotonica, DM) is one of the most common lethal monogenic disorders in populations of European descent. DM type 1 was first described over a century ago. More recently, a second form of the disease, DM type 2 was recognized, which results from repeat expansion in a different gene. Both disorders have autosomal dominant inheritance and multisystem features, including myotonic myopathy, cataract, and cardiac conduction disease. This article reviews the clinical presentation and pathophysiology of DM and discusses current management and future potential for developing targeted therapies.

引用

页码：705 / +

页数：16

共 111 条

[71] Splicing Biomarkers of Disease Severity in Myotonic Dystrophy [J].

Nakamori, Masayuki ;

Sobczak, Krzysztof ;

Puwanant, Araya ;

Welle, Steve ;

Eichinger, Katy ;

Pandya, Shree ;

Dekdebrun, Jeannne ;

Heatwole, Chad R. ;

McDermott, Michael P. ;

Chen, Tian ;

Cline, Melissa ;

Tawil, Rabi ;

Osborne, Robert J. ;

Wheeler, Thurman M. ;

Swanson, Maurice S. ;

Moxley, Richard T., III ;

Thornton, Charles A. .

ANNALS OF NEUROLOGY, 2013, 74 (06) :862-872

[72] Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population [J].

Norwood, Fiona L. M. ;

Harling, Chris ;

Chinnery, Patrick F. ;

Eagle, Michelle ;

Bushby, Kate ;

Straub, Volker .

BRAIN, 2009, 132 :3175-3186

[73] From dynamic combinatorial 'hit' to lead: in vitro and in vivo activity of compounds targeting the pathogenic RNAs that cause myotonic dystrophy [J].

Ofori, Leslie O. ;

Hoskins, Jason ;

Nakamori, Masayuki ;

Thornton, Charles A. ;

Miller, Benjamin L. .

NUCLEIC ACIDS RESEARCH, 2012, 40 (13) :6380-6390

[74] Modafinil for the Treatment of Hypersomnia Associated With Myotonic Muscular Dystrophy in Adults: A Multicenter, Prospective, Randomized, Double-Blind, Placebo-Controlled, 4-Week Trial [J].

Orlikowski, David ;

Chevret, Sylvie ;

Quera-Salva, Maria Antonia ;

Laforet, Pascal ;

Lofaso, Frederic ;

Verschueren, Annie ;

Pouget, Jean ;

Eymard, Bruno ;

Annane, Djillali .

CLINICAL THERAPEUTICS, 2009, 31 (08) :1765-1773

[75] RNA-dominant diseases [J].

Osborne, Robert J. ;

Thornton, Charles A. .

HUMAN MOLECULAR GENETICS, 2006, 15 :R162-R169

[76] Repeat instability: Mechanisms of dynamic mutations [J].

Pearson, CE ;

Edamura, KN ;

Cleary, JD .

NATURE REVIEWS GENETICS, 2005, 6 (10) :729-742

[77] Absence of a differentiation defect in muscle satellite cells from DM2 patients [J].

Pelletier, Richard ;

Hamel, Frederic ;

Beaulieu, Daniel ;

Patry, Lysanne ;

Haineault, Caroline ;

Tarnopolsky, Mark ;

Schoser, Benedikt ;

Puymirat, Jack .

NEUROBIOLOGY OF DISEASE, 2009, 36 (01) :181-190

[78]

Peric Stojan, 2013, Acta Myol, V32, P106

[79] Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy [J].

Philips, AV ;

Timchenko, LT ;

Cooper, TA .

SCIENCE, 1998, 280 (5364) :737-741

[80] Supine changes in lung function correlate with chronic respiratory failure in myotonic dystrophy patients [J].

Poussel, Mathias ;

Kaminsky, Pierre ;

Renaud, Pierre ;

Laroppe, Julien ;

Pruna, Lelia ;

Chenuel, Bruno .

RESPIRATORY PHYSIOLOGY & NEUROBIOLOGY, 2014, 193 :43-51

← 3 4 5 6 7 8 9 10 11 12 →