Mutation Spectrum of Primary Lipid Storage Myopathies
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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