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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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Dettagli Bibliografici
Pubblicato in:Acta Neuropathol Commun
Autori principali: Malfatti, Edoardo, Lehtokari, Vilma-Lotta, Böhm, Johann, De Winter, Josine M, Schäffer, Ursula, Estournet, Brigitte, Quijano-Roy, Susana, Monges, Soledad, Lubieniecki, Fabiana, Bellance, Remi, Viou, Mai Thao, Madelaine, Angéline, Wu, Bin, Taratuto, Ana Lía, Eymard, Bruno, Pelin, Katarina, Fardeau, Michel, Ottenheijm, Coen AC, Wallgren-Pettersson, Carina, Laporte, Jocelyn, Romero, Norma B
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2014
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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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