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Article

A novel variant of DNM1L expanding the clinical phenotypic spectrum: a case report and literature review.

BMC pediatrics - 10 Feb 2024

Zhang Zhenkun, Bie Xiaofan, Chen Zhehui, Liu Jing, Xie Zhenhua, Li Xian, Xiao Mengjun, Zhang Qiang, Zhang Yaodong, Yang Yanling, Li Dongxiao

Abstract excerpt

BACKGROUND: Mitochondrial diseases are heterogeneous in terms of clinical manifestations and genetic characteristics. The dynamin 1-like gene (DNM1L) encodes dynamin-related protein 1 (DRP1), a member of the GTPases dynamin superfamily responsible for mitochondrial and peroxisomal fission. DNM1L variants can lead to mitochondrial fission dysfunction. CASE PRESENTATION: Herein, we report a distinctive clinical...

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Identifiers

PMID: 38341530
DOI: 10.1186/s12887-023-04442-y
PMCID: PMC10858475

Genes

DNM1L

Variants

Provenance

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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