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Updated: Jan 23, 2026
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Author Spotlight: Advanced Integrated Model for Sepsis-Induced Myopathy and Single-Cell Metabolic Analysis
Published on: June 14, 2024
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Nemaline myopathies: a current view.
Caroline A Sewry1,2, Jenni M Laitila3,4, Carina Wallgren-Pettersson3,4
1Dubowitz Neuromuscular Centre, UCL Institute of Child Health and Great Ormond Street Hospital, 30 Guilford Street, London, WC1N 1EH, UK. c.sewry@imperial.ac.uk.
Journal of Muscle Research and Cell Motility
|June 23, 2019
Summary
Nemaline myopathies are rare genetic muscle disorders. Research identifies new genes and clarifies disease mechanisms, advancing understanding and symptom management for affected individuals.
Area of Science:
- Neurology
- Genetics
- Pathology
Background:
- Nemaline myopathies are a diverse group of congenital muscle disorders.
- Mutations in genes like ACTA1 and NEB are common causes.
- Clinical presentations range from severe neonatal onset to milder childhood or adult forms.
Purpose of the Study:
- To summarize current knowledge on nemaline myopathies.
- To highlight the role of genetic mutations and diagnostic features.
- To discuss the progress in understanding and managing these conditions.
Main Methods:
- Review of genetic databases and literature.
- Analysis of clinical phenotypes and pathological findings.
- Examination of diagnostic criteria including electron microscopy and specific staining techniques.
Main Results:
- Over twelve genes are implicated, with ACTA1 and NEB being most frequent.
- Distinct nemaline body morphologies in KLHL40 and LMOD3 mutations aid diagnosis.
- Associated features like caps and cores are linked to rod-causing genes.
Conclusions:
- Massively parallel sequencing expands the known genetic landscape of nemaline myopathies.
- Pathological features, while variable, offer diagnostic clues.
- Animal models are crucial for developing future therapies beyond current supportive care.
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