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Article

New variant of necklace fibres display peculiar lysosomal structures and mitophagy.

Neuromuscular disorders : NMD - 1 Oct 2018

Rinnenthal Jan Leo, Dittmayer Carsten, Irlbacher Kerstin, Wacker Irene, Schröder Rasmus, Goebel Hans-Hilmar, Butori Catherine, Villa Luisa, Sacconi Sabrina, Stenzel Werner

Abstract excerpt

Here, we describe a new variant of necklace fibres with specific myopathological features that have not been described thus far. They were observed in two patients, from two independent families with identical DNM2 (dynamin 2) mutation (c.1106 G > A (p.Arg369Gln)), displaying mildly heterogeneous clinical phenotypes. The variant is characterized by lysosomal inclusions, arranged in a necklace pattern, containing...

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Source

Identifiers

PMID: 30149909
DOI: 10.1016/j.nmd.2018.06.010

Genes

DNM2
MTM1

Variants

Provenance

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