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17.10.2023 | Original Communication

Mitochondrial myopathy without extraocular muscle involvement: a unique clinicopathologic profile

verfasst von: Yan Lin, Jiayin Wang, Hong Ren, Xiaotian Ma, Wei Wang, Ying Zhao, Zhihong Xu, Shuangwu Liu, Wenqing Wang, Xuebi Xu, Bin Wang, Dandan Zhao, Dongdong Wang, Wei Li, Fuchen Liu, Yuying Zhao, Jianqiang Lu, Chuanzhu Yan, Kunqian Ji

Erschienen in: Journal of Neurology | Ausgabe 2/2024

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Abstract

Objective

Mitochondrial myopathy without extraocular muscles involvement (MiMy) represents a distinct form of mitochondrial disorder predominantly affecting proximal/distal or axial muscles, with its phenotypic, genotypic features, and long-term prognosis poorly understood.

Methods

A cross-sectional study conducted at a national diagnostic center for mitochondrial disease involved 47 MiMy patients, from a cohort of 643 mitochondrial disease cases followed up at Qilu Hospital from January 1, 2000, to January 1, 2021. We compared the clinical, pathological, and genetic features of MiMy to progressive external ophthalmoplegia (PEO) and mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) patients.

Results

MiMy patients demonstrated a more pronounced muscle involvement syndrome, with lower 6MWT scores, higher FSS, and lower BMI compared to PEO and MELAS patients. Serum levels of creatinine kinase (CK), lactate, and growth and differentiation factor 15 (GDF15) were substantially elevated in MiMy patients. Nearly a third (31.9%) displayed signs of subclinical peripheral neuropathy, mostly axonal neuropathy. Muscle biopsies revealed that cytochrome c oxidase strong (COX-s) ragged-red fibers (RRFs) were a typical pathological feature in MiMy patients. Genetic analysis predominantly revealed mtDNA point pathogenic variants (59.6%) and less frequently single (12.8%) or multiple (4.2%) mtDNA deletions. During the follow-up, a majority (76.1%) of MiMy patients experienced stabilization or improvement after therapeutic intervention.

Conclusions

This study provides a comprehensive profile of MiMy through a large patient cohort, elucidating its unique clinical, genetic, and pathological features. These findings offer significant insights into the diagnostic and therapeutic management of MiMy, ultimately aiming to ameliorate patient outcomes and enhance the quality of life.

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Titel: Mitochondrial myopathy without extraocular muscle involvement: a unique clinicopathologic profile
verfasst von: Yan Lin
Jiayin Wang
Hong Ren
Xiaotian Ma
Wei Wang
Ying Zhao
Zhihong Xu
Shuangwu Liu
Wenqing Wang
Xuebi Xu
Bin Wang
Dandan Zhao
Dongdong Wang
Wei Li
Fuchen Liu
Yuying Zhao
Jianqiang Lu
Chuanzhu Yan
Kunqian Ji
Publikationsdatum: 17.10.2023
Verlag: Springer Berlin Heidelberg
Erschienen in: Journal of Neurology / Ausgabe 2/2024
Print ISSN: 0340-5354
Elektronische ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-023-12005-5

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