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Article

Atypical nuclear abnormalities in a patient with Brody disease.

Neuromuscular disorders : NMD - 1 Oct 2015

Mussini Jean-Marie, Magot Armelle, Hantaï Daniel, Sternberg Damien, Chevessier Frédéric, Péréon Yann

Abstract excerpt

Brody disease was first described as a benign pseudo-myotonic disorder with muscular stiffness, which increased with exercise. Biochemical and genetic studies have pointed out its close relationship to a functional defect of the fast-twitch sarcoplasmic reticulum Ca(++) ATPase pump (SERCA1) encoded by the ATP2A1 gene located on chromosome 16. The histopathological features in this form of myopathy were generally...

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PMID: 26248958
DOI: 10.1016/j.nmd.2015.07.005

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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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