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Unclassified polysaccharidosis of the heart and skeletal muscle in siblings

We describe a 15-year-old boy and his 19-year-old sister with progressive dilated cardiomyopathy and mild non-progressive proximal lower limb myopathy, secondary to the accumulation of amylopectin-like fibrillar glycogen, (polyglucosan) bodies, in heart and skeletal muscle. Evidence of idiopathic am...

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Main Authors: Schoser, Benedikt, Bruno, Claudio, Schneider, Hans-Christian, Shin, Yoon S., Podskarbi, Teodor, Goldfarb, Lev, Müller-Felber, Wolfgang, Müller-Höcker, Josef
Formato: Artigo
Idioma:Inglês
Publicado: 2008
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC2583439/
https://ncbi.nlm.nih.gov/pubmed/18691923
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2008.07.005
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