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A rare structural myopathy: Nemaline myopathy

Nemaline myopathy, which is characterized by the accumulation of ‘’rod’’ bodies in muscle fibers is a very rare inherited muscle disease. According to the underlying mutation, the disease has varying severity of clinical outcomes. Patients with severe forms of the disease die because of hypotonia, f...

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Détails bibliographiques
Publié dans:Turk Pediatri Ars
Auteurs principaux: Yeşilbaş, Osman, Şevketoğlu, Esra, Kıhtır, Hasan Serdar, Ersoy, Melike, Petmezci, Mey Talip, Akkuş, Canan Hasbal, Şahin, Önder, Ceylaner, Serdar
Format: Artigo
Langue:Inglês
Publié: Kare Publishing 2019
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6559969/
https://ncbi.nlm.nih.gov/pubmed/31217710
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5152/TurkPediatriArs.2018.4402
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