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Article

Neutral lipid storage disease with myopathy: clinicopathological and genetic features of nine Iranian patients.

Neuromuscular disorders : NMD - 1 Feb 2024

Shahriyari Hamed, Ramezani Mahtab, Nilipour Yalda, Okhovat Ali Asghar, Kariminejad Ariana, Aghaghazvini Leila, Fatehi Farzad, Nafissi Shahriar

Abstract excerpt

The rare disorder known as Neutral Lipid Storage Disease with Myopathy presents with a variety of clinical manifestations, including myopathy, cardiac dysfunction, and other organ complications. Early diagnosis is crucial due to the increased risk of cardiomyopathy. We describe the clinical, histopathological, muscle imaging, and genetic findings of nine neutral lipid storage myopathy patients. Proximal weakness...

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Identifiers

PMID: 38194732
DOI: 10.1016/j.nmd.2023.12.012

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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