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Article

Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients.

Brain : a journal of neurology - 1 Feb 2004

Selcen Duygu, Ohno Kinji, Engel Andrew G

Abstract excerpt

The term myofibrillar myopathy (MFM) was proposed in 1996 as a non-committal term for a pathological pattern of myofibrillar dissolution associated with accumulation of myofibrillar degradation products and ectopic expression of multiple proteins that include desmin, alphaB-crystallin (alphaBC), dystrophin and congophilic amyloid material. Subsequent studies revealed dominant mutations in desmin and alphaBC in...

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PMID: 14711882
DOI: 10.1093/brain/awh052

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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