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Article

Domain-Specific Genotype-Phenotype Correlations in DNM1L Disorders: Insights Into Mutation Hotspots and Clinical Severity.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 15 Jul 2026

Liang Hui, Chen Zefu, Huang Shixiong, Wei Huolan, Xu Jiyi, Hu Shijun

Abstract excerpt

DNM1L-related disorders are rare mitochondrial diseases characterized by defective fission dynamics, often presenting with severe neurological manifestations. Current diagnostic and prognostic challenges stem from incomplete knowledge of domain-specific genotype-phenotype correlations and limited clinical data. We report a novel GTPase effector domain (GED) variant (p.Val687del) and conduct a systematic analysis...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42381493
DOI: 10.1096/fj.202502759RR

Genes

DNM1L

Variants

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Domain-Specific Genotype-Phenotype Correlations in DNM1L Disorders: Insights Into Mutation Hotspots and Clinical Severity.PMID 42381493Read ↗

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