Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases

BACKGROUND: Sporadic late-onset nemaline myopathy (SLONM) is a rare, late-onset muscle disorder, characterized by the presence of nemaline rods in muscle fibers. Phenotypic characterization in a large cohort and a comprehensive overview of SLONM are lacking. METHODS: We studied the clinico-pathologi...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Schnitzler, Lukas J., Schreckenbach, Tobias, Nadaj-Pakleza, Aleksandra, Stenzel, Werner, Rushing, Elisabeth J., Van Damme, Philip, Ferbert, Andreas, Petri, Susanne, Hartmann, Christian, Bornemann, Antje, Meisel, Andreas, Petersen, Jens A., Tousseyn, Thomas, Thal, Dietmar R., Reimann, Jens, De Jonghe, Peter, Martin, Jean-Jacques, Van den Bergh, Peter Y., Schulz, Jörg B., Weis, Joachim, Claeys, Kristl G.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2017
Assuntos:
Review
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5425967/
https://ncbi.nlm.nih.gov/pubmed/28490364
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-017-0640-2
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