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Selective muscle MRI changes in a patient with a rare mitochondrial DNA variant causing myoclonic epilepsy with ragged red fibres

Lookup NU author(s): Sila Hopton, Dr Yi Ng, Professor Robert TaylorORCiD

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Abstract

© 2025 Elsevier B.V.Primary mitochondrial disease refers to a group of genetic disorders caused by pathogenic variants in either the nuclear or mitochondrial genomes, leading to an impairment of oxidative phosphorylation. We present a young female with a prominent myopathic phenotype associated with an episode of cardiac decompensation. MRI of lower limb musculature revealed a selective pattern of fatty infiltration and muscle oedema. Skeletal muscle biopsy confirmed significant evidence of mitochondrial histopathological abnormalities characterised by multiple respiratory chain deficiencies whilst complete sequencing of the entire mitochondrial genome identified a rare, likely pathogenic m.8362T>G MT-TK gene (NC_012920.1) variant at high levels of heteroplasmy, which we confirmed to be maternally-inherited.

Publication metadata

Author(s): Watson-Fargie T, Anderson DG, Stewart W, Longman C, Hopton S, Ng YS, Blakely EL, Taylor RW, Farrugia ME

Publication type: Article

Publication status: Published

Journal: Neuromuscular Disorders

Year: 2025

Volume: 54

Print publication date: 01/09/2025

Online publication date: 13/08/2025

Acceptance date: 13/08/2025

ISSN (print): 0960-8966

ISSN (electronic): 1873-2364

Publisher: Elsevier Ltd

URL: https://doi.org/10.1016/j.nmd.2025.106204

DOI: 10.1016/j.nmd.2025.106204

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