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Article

Myofibrillar myopathy in the genomic context.

Journal of applied genetics - 1 Nov 2018

Fichna Jakub Piotr, Maruszak Aleksandra, Żekanowski Cezary

Abstract excerpt

Myofibrillar myopathy (MFM) is a group of inherited muscular disorders characterized by myofibril dissolution and abnormal accumulation of degradation products. The diagnosis of muscular disorders based on clinical presentation is difficult due to phenotypic heterogeneity and overlapping symptoms. In addition, precise diagnosis does not always explain the disease etiopathology or the highly variable clinical...

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PMID: 30203143
DOI: 10.1007/s13353-018-0463-4

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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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