Movement Disorders in Two Children with DNM1L-related Mitochondrial Cytopathy (P8-5.018)

We describe two patients who presented with dystonia and were found to have DNM1L mutations. We describe their presentation, clinical course and management with accompanying video.

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Publication Details

Journal
Neurology
Published
2025-04-07
DOI
https://doi.org/10.1212/wnl.0000000000210545
Primary Topic
Mitochondrial Function and Pathology
Type
article
Field-Weighted Citation Impact
0.00
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article

Movement Disorders in Two Children with DNM1L-related Mitochondrial Cytopathy (P8-5.018)

Mered Parnes, Manasa Sudheendra, Mariam Hull, Haleigh Stafford et al.
Neurology
Mitochondrial Function and Pathology
article

Movement Disorders in Two Children with DNM1L-related Mitochondrial Cytopathy (P8-5.018)

Mered Parnes, Manasa Sudheendra, Mariam Hull, Haleigh Stafford, Naomi Kass
article en

Abstract

We describe two patients who presented with dystonia and were found to have DNM1L mutations. We describe their presentation, clinical course and management with accompanying video.

NeurologyVol. 104(7_Supplement_1)
Baylor College of Medicine (US), Texas Children's Hospital (US)
Openalex Percentile: Top 94%
Mitochondrial Function and Pathology
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