Limb Girdle Muscular Dystrophies

被引：15

作者：

Bockhorst, Jacob ^{[1
]}

Wicklund, Matthew ^{[1
]}

机构：

[1] Univ Colorado, Sch Med, Anschutz Med Campus,Mail Stop B185,Acad Off 1, Aurora, CO 80045 USA

来源：

NEUROLOGIC CLINICS | 2020年 / 38卷 / 03期

关键词：

Limb girdle muscular dystrophies; Anoctamin; 5; Calpain; 3; Caveolin; Lamin A/C;

D O I：

10.1016/j.ncl.2020.03.009

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

100204 [神经病学];

摘要：

The limb girdle muscular dystrophies (LGMDs) are genetic muscle diseases with primary skeletal muscle involvement in persons with the ability to walk independently at some point in the disease course. They usually have increased creatine kinase levels along with patterns of fatty and fibrous deposition on muscle imaging and/or dystrophic features on muscle biopsy. Distinctive clinical features provide valuable diagnostic clues to the diagnosis and sometimes treatment of these disorders. The advent of gene and cell-based therapies; gene replacement, editing, and modulation; along with stem cell and small molecule therapies may significantly ameliorate clinical severity in the LGMDs. © 2020 Elsevier Inc.

引用

页码：493 / 504

页数：12

共 22 条

[1]

Experiences with bariatric surgery in patients with facioscapulohumeral dystrophy and myotonic dystrophy type 1: A qualitative study [J].

Abel, Esther E. D. H. ;

Cup, Edith H. C. ;

Lanser, Anke ;

Leclercq, Wouter K. G. ;

Raaphorst, Joost ;

Padberg, George W. ;

Satink, Ton ;

Voermans, Nicol C. .

NEUROMUSCULAR DISORDERS, 2018, 28 (11) :938-946

[2]

Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations [J].

Balcin, Hasan ;

Palmio, Johanna ;

Penttila, Sini ;

Nennesmo, Inger ;

Lindfors, Mikaela ;

Solders, Goran ;

Udd, Bjarne .

NEUROMUSCULAR DISORDERS, 2017, 27 (07) :627-630

[3]

Bruno C, 2012, GENEREVIEWS, P1993

[4]

Importance of early diagnosis in LMNA-related muscular dystrophy for cardiac surveillance [J].

Choi, Sun Ah ;

Cho, Anna ;

Kim, Soo Yeon ;

Kim, Woo Joong ;

Shim, Young Kyu ;

Lee, Jin Sook ;

Jang, Se Song ;

Lim, Byung Chan ;

Kim, Hunmin ;

Hwang, Hee ;

Choi, Ji Eun ;

Kim, Ki Joong ;

Kim, Man Jin ;

Seong, Moon-Woo ;

Chae, Jong-Hee .

MUSCLE & NERVE, 2019, 60 (06) :668-672

[5]

AAV-based gene therapies for the muscular dystrophies [J].

Crudele, Julie M. ;

Chamberlain, Jeffrey S. .

HUMAN MOLECULAR GENETICS, 2019, 28 (R1) :R102-R107

[6]

Characteristic findings of skeletal muscle MRI in caveolinopathies [J].

Ishiguro, Kumiko ;

Nakayama, Takahiro ;

Yoshioka, Masaru ;

Murakami, Terumi ;

Kajino, Sachiko ;

Shichiji, Minobu ;

Sato, Takatoshi ;

Hino-Fukuyo, Naomi ;

Kuru, Satoshi ;

Osawa, Makiko ;

Nagata, Satoru ;

Okubo, Mariko ;

Murakami, Nobuyuki ;

Hayashi, Yukiko K. ;

Nishino, Ichizo ;

Ishigaki, Keiko .

NEUROMUSCULAR DISORDERS, 2018, 28 (10) :857-862

[7]

ANO5-muscular dystrophy: clinical, pathological and molecular findings [J].

Liewluck, T. ;

Winder, T. L. ;

Dimberg, E. L. ;

Crum, B. A. ;

Heppelmann, C. J. ;

Wang, Y. ;

Bergen, H. R., III ;

Milone, M. .

EUROPEAN JOURNAL OF NEUROLOGY, 2013, 20 (10) :1383-1389

[8]

Estimating prevalence for limb-girdle muscular dystrophy based on public sequencing databases [J].

Liu, Wei ;

Pajusalu, Sander ;

Lake, Nicole J. ;

Zhou, Geyu ;

Ioannidis, Nilah ;

Mittal, Plavi ;

Johnson, Nicholas E. ;

Weihl, Conrad C. ;

Williams, Bradley A. ;

Albrecht, Douglas E. ;

Rufibach, Laura E. ;

Lek, Monkol .

GENETICS IN MEDICINE, 2019, 21 (11) :2512-2520

[9]

LMNA-associated myopathies The Italian experience in a large cohort of patients [J].

Maggi, Lorenzo ;

D'Amico, Adele ;

Pini, Antonella ;

Sivo, Serena ;

Pane, Marika ;

Ricci, Giulia ;

Vercelli, Liliana ;

D'Ambrosio, Paola ;

Travaglini, Lorena ;

Sala, Simone ;

Brenna, Greta ;

Kapetis, Dimos ;

Scarlato, Marina ;

Pegoraro, Elena ;

Ferrari, Maurizio ;

Toscano, Antonio ;

Benedetti, Sara ;

Bernasconi, Pia ;

Colleoni, Lara ;

Lattanzi, Giovanna ;

Bertini, Enrico ;

Mercuri, Eugenio ;

Siciliano, Gabriele ;

Rodolico, Carmelo ;

Mongini, Tiziana ;

Politano, Luisa ;

Previtali, Stefano C. ;

Carboni, Nicola ;

Mantegazza, Renato ;

Morandi, Lucia .

NEUROLOGY, 2014, 83 (18) :1634-1644

[10]

Mohassel Payam, 2018, J Neuromuscul Dis, V5, P11, DOI 10.3233/JND-170282

← 1 2 3 →