Articles with "storage myopathies" as a keyword



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Editorial Commentary: Lipid Storage Myopathies

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Published in 2022 at "Annals of Indian Academy of Neurology"

DOI: 10.4103/aian.aian_1026_21

Abstract: 5 Limb‐girdle syndromes are seen at all ages and include a wide variety of conditions. Classifying such syndromes can be challenging due to their slowly progressive nature, myriad etiologies ranging from genetic, inflammatory, metabolic, drug‐induced… read more here.

Keywords: lipid storage; storage; storage myopathies; editorial commentary ... See more keywords
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Mutation Spectrum of Primary Lipid Storage Myopathies

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Published in 2022 at "Annals of Indian Academy of Neurology"

DOI: 10.4103/aian.aian_333_21

Abstract: Background: Lipid storage myopathies (LSM) constitute an important group of treatable myopathies. Genetic testing is essential for confirming the diagnosis and also helps in explaining phenotypic heterogeneity. The objective of this study was to describe… read more here.

Keywords: lipid storage; spectrum primary; mutation spectrum; storage myopathies ... See more keywords