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Article

Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila.

Human molecular genetics - 1 May 2016

Chao Yu-Hsin, Robak Laurie A, Xia Fan, Koenig Mary K, Adesina Adekunle, Bacino Carlos A, Scaglia Fernando, Bellen Hugo J, Wangler Michael F

Abstract excerpt

Defects in organelle dynamics underlie a number of human degenerative disorders, and whole exome sequencing (WES) is a powerful tool for studying genetic changes that affect the cellular machinery. WES may uncover variants of unknown significance (VUS) that require functional validation. Previously, a pathogenic de novo variant in the middle domain of DNM1L (p.A395D) was identified in a single patient with a...

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Identifiers

PMID: 26931468
DOI: 10.1093/hmg/ddw059
PMCID: PMC5007591

Genes

PDHA1

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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