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Article

Muscle MRI in neutral lipid storage disease with myopathy carrying mutation c.187+1G>A.

Muscle & nerve - 1 Jun 2015

Xu Chunxiao, Zhao Yawen, Liu Jing, Zhang Wei, Wang Zhaoxia, Yuan Yun

Abstract excerpt

INTRODUCTION: We describe the clinical and muscle MRI changes in 2 siblings with neutral lipid storage disease with myopathy (NLSDM) carrying the mutation c.187+1G>A. METHODS: Peripheral blood smears, genetic tests, and muscle biopsies were performed. Thigh MRI was performed to observe fatty repl...

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Identifiers

PMID: 25363365
DOI: 10.1002/mus.24507

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25363365-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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