Recent advances in nemaline myopathy

被引：55

作者：

Laitila, Jenni ^{[1
,2
,3
,4
]}

Wallgren-Pettersson, Carina ^{[1
,2
]}

机构：

[1] Folkhalsan Res Ctr, Folkhalsan Inst Genet, Helsinki, Finland

[2] Univ Helsinki, Departmanl Med Genet, Med, Helsinki, Finland

[3] Univ Copenhagen, Dept Biomed Sci, Copenhagen, Denmark

[4] Folkhalsan Res Ctr, Haartmaninkatu 8, Helsinki 00290, Finland

来源：

NEUROMUSCULAR DISORDERS | 2021年 / 31卷 / 10期

基金：

芬兰科学院;

关键词：

Nemaline (rod) myopathy; Congenital myopathy; Pathogenesis; Genetics; Clinical; Functional; GENOTYPE-PHENOTYPE CORRELATIONS; NEBULIN GENE; HYPERTROPHIC CARDIOMYOPATHY; DISTAL ARTHROGRYPOSIS; MUTATION UPDATE; MUSCLE WEAKNESS; TNNT1; MUTATION; EXON; 55; COFILIN-2; DELETION;

D O I：

10.1016/j.nmd.2021.07.012

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The nemaline myopathies constitute a large proportion of the congenital or structural myopathies. Common to all patients is muscle weakness and the presence in the muscle biopsy of nemaline rods. The causative genes are at least twelve, encoding structural or regulatory proteins of the thin filament, and the clinical picture as well as the histological appearance on muscle biopsy vary widely. Here, we suggest a renewed clinical classification to replace the original one, summarise what is known about the pathogenesis from mutations in each causative gene to the forms of nemaline myopathy described to date, and provide perspectives on pathogenetic mechanisms possibly open to therapeutic modalities. (c) 2021 The Authors. Published by Elsevier B.V. This is an open access article under the CC BY license ( http://creativecommons.org/licenses/by/4.0/ )

引用

页码：955 / 967

页数：13

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