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Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype
Nemaline myopathy (NM) is a rare congenital myopathy characterised by hypotonia, muscle weakness, and often skeletal muscle deformities with the presence of nemaline bodies (rods) in the muscle biopsy. The nebulin (NEB) gene is the most commonly mutated and is thought to account for approximately 50...
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| Pubblicato in: | Acta Neuropathol Commun |
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| Autori principali: | , , , , , , , , , , , , , , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BioMed Central
2014
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4234932/ https://ncbi.nlm.nih.gov/pubmed/24725366 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/2051-5960-2-44 |
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