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Article

Autophagic vacuolar pathology in desminopathies.

Neuromuscular disorders : NMD - 1 Mar 2015

Weihl Conrad C, Iyadurai Stanley, Baloh Robert H, Pittman Sara K, Schmidt Robert E, Lopate Glenn, Pestronk Alan, Harms Matthew B

Abstract excerpt

Autophagic vacuolar myopathies are an emerging group of muscle diseases with common pathologic features. These include autophagic vacuoles containing both lysosomal and autophagosomal proteins sometimes lined with sarcolemmal proteins such as dystrophin. These features have been most clearly described in patients with Danon's disease due to LAMP2 deficiency and X-linked myopathy with excessive autophagy (XMEA)...

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Source

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Identifiers

PMID: 25557463
DOI: 10.1016/j.nmd.2014.12.002
PMCID: PMC4355324

Genes

DES
LAMP2
VMA21

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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