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Article

Neutral lipid storage disease with myopathy: a whole-body nuclear MRI and metabolic study.

Molecular genetics and metabolism - 1 Feb 2013

Laforêt Pascal, Stojkovic Tanya, Bassez Guillaume, Carlier Pierre G, Clément Karine, Wahbi Karim, Petit François M, Eymard Bruno, Carlier Robert-Yves

Abstract excerpt

Neutral lipid storage disease with myopathy (NLSDM) is caused by a mutation in the gene encoding adipose triglyceride lipase (ATGL), and is characterized by the presence of numerous triglyceride-containing cytoplasmic droplets in type I muscle fibers. Major clinical manifestations concern the heart and skeletal muscle, and some patients also present diabetes mellitus. We report the clinical, metabolic, and...

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Identifiers

PMID: 23333026
DOI: 10.1016/j.ymgme.2012.12.004

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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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