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Article

No cardiomyopathy in X-linked myopathy with excessive autophagy.

Neuromuscular disorders : NMD - 1 Jun 2015

Saraste Antti, Koskenvuo Juha W, Airaksinen Juhani, Ramachandran Nivetha, Munteanu Iulia, Udd Bjarne, Huovinen Sanna, Kalimo Hannu, Minassian Berge A

Abstract excerpt

In X-linked myopathy with excessive autophagy (XMEA) progressive sarcoplasmic accumulation of autolysosomes filled with undegraded debris leads to atrophy and weakness of skeletal muscles. XMEA is caused by compromised acidification of lysosomes resulting from hypofunction of the proton pump vacu...

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Source

Identifiers

PMID: 25845477
DOI: 10.1016/j.nmd.2015.03.003

Genes

VMA21

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25845477-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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