Key result
This review summarizes the pathogenesis of nemaline myopathy across at least twelve causative genes, proposes a renewed clinical classification, and discusses potential therapeutic modalities.
Why the study?
Nemaline myopathies exhibit wide clinical and histological variability across at least twelve causative genes, prompting a renewed clinical classification, pathogenesis summary, and therapeutic perspectives.
This review provides an updated clinical classification and overview of pathogenetic mechanisms for nemaline myopathy, highlighting potential therapeutic modalities.
Answers are grounded in this paper and cite their sources.
Updated nemaline myopathy classification may refine phenotyping; leaves open prospective validation before clinical adoption.
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.
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Laitila et al. (2021) conducted a review in Nemaline myopathy. This review summarizes the pathogenesis of nemaline myopathy across at least twelve causative genes, proposes a renewed clinical classification, and discusses potential therapeutic modalities.
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