Ryanodine Receptor 1-Related Myopathies: Diagnostic and Therapeutic Approaches.
Ryanodine Receptor 1-Related Myopathies: Diagnostic and Therapeutic Approaches.
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DOI：
10.1007/s13311-018-00677-1
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发表时间：
2018-10
期刊：
影响因子：
--
通讯作者：
Meilleur KG
中科院分区：
文献类型：
--
作者：
Lawal TA;Todd JJ;Meilleur KG
Ryanodine受体1型相关肌病（RYR 1-RM）是最常见的一类先天性肌病。从历史上看，RYR 1-RM的分类和诊断一直由肌肉活检的组织病理学结果指导。RYR 1-RM的主要组织学亚型包括中央核心病、多微核心病、核心-杆肌病、中央型肌病和先天性纤维型不称。最近还出现了一系列RYR 1-RM临床表型，包括King Denborough综合征、RYR 1横纹肌溶解-肌痛综合征、非典型周期性麻痹、具有均匀1型纤维的先天性神经肌肉疾病和迟发性轴性肌病。RYR 1-RM疾病谱的这种扩展部分是由于下一代测序方法的实施，该方法包括整个RYR 1编码序列，而不是仅限于热点区域。这些方法增强了诊断能力，特别是考虑到跨RYR 1-RM的组织病理学和临床重叠的历史局限性。显性和隐性遗传模式都有记载，后者通常与更严重的临床表型相关。与所有先天性肌病一样，迄今为止还没有FDA批准的治疗方法。在这里，我们回顾主要RYR 1-RM亚型的组织病理学，临床，影像学和遗传学诊断特征。我们还讨论了治疗的现状，并专注于正在开发的RYR 1-RM疾病调节（非遗传）治疗策略。最后，展望未来的治疗方法的发展。
Ryanodine receptor type 1-related myopathies (RYR1-RM) are the most common class of congenital myopathies. Historically, RYR1-RM classification and diagnosis have been guided by histopathologic findings on muscle biopsy. Main histological subtypes of RYR1-RM include central core disease, multiminicore disease, core–rod myopathy, centronuclear myopathy, and congenital fiber-type disproportion. A range of RYR1-RM clinical phenotypes has also emerged more recently and includes King Denborough syndrome, RYR1 rhabdomyolysis-myalgia syndrome, atypical periodic paralysis, congenital neuromuscular disease with uniform type 1 fibers, and late-onset axial myopathy. This expansion of the RYR1-RM disease spectrum is due, in part, to implementation of next-generation sequencing methods, which include the entire RYR1 coding sequence rather than being restricted to hotspot regions. These methods enhance diagnostic capabilities, especially given historic limitations of histopathologic and clinical overlap across RYR1-RM. Both dominant and recessive modes of inheritance have been documented, with the latter typically associated with a more severe clinical phenotype. As with all congenital myopathies, no FDA-approved treatments exist to date. Here, we review histopathologic, clinical, imaging, and genetic diagnostic features of the main RYR1-RM subtypes. We also discuss the current state of treatments and focus on disease-modulating (nongenetic) therapeutic strategies under development for RYR1-RM. Finally, perspectives for future approaches to treatment development are broached.
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DOI：
10.1096/fj.201700182rrr
发表时间：
2018-03
期刊：
FASEB journal : official publication of the Federation of American Societies for Experimental Biology
影响因子：
--
作者：
Capogrosso RF;Mantuano P;Uaesoontrachoon K;Cozzoli A;Giustino A;Dow T;Srinivassane S;Filipovic M;Bell C;Vandermeulen J;Massari AM;De Bellis M;Conte E;Pierno S;Camerino GM;Liantonio A;Nagaraju K;De Luca A
通讯作者：
De Luca A
影响因子：
9.9
作者：
Colombo, Irene;Scoto, Mariacristina;Muntoni, Francesco
通讯作者：
Muntoni, Francesco
影响因子：
2.8
作者：
Darin, N;Tulinius, M
通讯作者：
Tulinius, M
影响因子：
64.5
作者：
BRILLANTES, AMB;ONDRIAS, K;MARKS, AR
通讯作者：
MARKS, AR
影响因子：
11.2
作者：
Amburgey, Kimberly;McNamara, Nancy;Dowling, James J.
通讯作者：
Dowling, James J.