Skeletal Muscle Laminopathies: A Review of Clinical and Molecular Features
Abstract
:1. Introduction
2. Genetics and Pathogenesis
3. Skeletal Muscle Involvement in Laminopathies
4. Cardiac Involvement
5. Atypical Cases in Laminopathies
6. Genotype-Phenotype Correlation
7. Treatment
8. Conclusions
Acknowledgments
Conflicts of Interest
References
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Onset | EDMD2 2nd–3rd Decade | LGMD1B 3rd–4th Decade | LMNA-CMD <2 Years |
---|---|---|---|
Weakness distribution | scapulo/humero/peroneal | pelvic/scapular | diffuse or DHS |
Tendon contractures | frequent, elbow quite specific | relatively frequent | frequent |
Axial involvement | frequent | rare | frequent |
Scoliosis | frequent | rare | frequent |
Rigid spine | frequent | rare | frequent |
Dysphagia | very rare | very rare | rare |
Facial weakness | rare | very rare | rare |
Non-autonomous ambulation | rare and late | rare and late | frequent |
Heart involvement | almost invariably with age | almost invariably with age | relatively frequent |
Respiratory involvement | rare | rare | relatively frequent |
Muscle biopsy | Unspecific myopathic | unspecific myopathic | myopathic or dystrophic |
Type of mutations | missense | frameshift | missense |
© 2016 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC-BY) license ( http://creativecommons.org/licenses/by/4.0/).
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Maggi, L.; Carboni, N.; Bernasconi, P. Skeletal Muscle Laminopathies: A Review of Clinical and Molecular Features. Cells 2016, 5, 33. https://doi.org/10.3390/cells5030033
Maggi L, Carboni N, Bernasconi P. Skeletal Muscle Laminopathies: A Review of Clinical and Molecular Features. Cells. 2016; 5(3):33. https://doi.org/10.3390/cells5030033
Chicago/Turabian StyleMaggi, Lorenzo, Nicola Carboni, and Pia Bernasconi. 2016. "Skeletal Muscle Laminopathies: A Review of Clinical and Molecular Features" Cells 5, no. 3: 33. https://doi.org/10.3390/cells5030033