Vacuolar necklace muscle fibers – a new variant?

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Necklace fibers, i.e. muscle fibers showing a discontinuous sarcoplasmic ring of nuclei in a necklace fashion some varying distance beneath the sarcolemma containing nuclei, have been encountered in biopsied muscle tissue of patients with centronuclear myopathies, both of the MTM and the DNM2 types. Enhanced oxidative enzyme activities are also a hallmark of these necklaces the connotation of which is still elusive. We have seen the necklace phenomenon in a biopsied deltoid muscle specimen of a 41 year old man with a heterozygous p.Arg369Gln DNM2 mutation who had bilateral ptosis, high arched palate, generalized muscle weakness, and a myopathic face.

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