Articles with "speg variant" as a keyword



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Novel SPEG variant cause centronuclear myopathy in China

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Published in 2019 at "Journal of Clinical Laboratory Analysis"

DOI: 10.1002/jcla.23054

Abstract: Centronuclear myopathy (CNM), a subtype of congenital myopathy (CM), is a group of clinical and genetically heterogeneous muscle disorders. Centronuclear myopathy is a kind of disease difficult to diagnose due to its genetic diversity. Since… read more here.

Keywords: cause centronuclear; speg; speg variant; centronuclear myopathy ... See more keywords