Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A Novel Presentation and Variable Phenotypic Spectrum of Homozygous Start-Loss Variant in LYRM7-Associated Mitochondrial Complex III Deficiency.

American journal of medical genetics. Part A - 1 Sept 2025

Luke Noel Deep, Vijayakrishnan Nair Aditya, Sivadasan Ajith, Muthusamy Karthik, Thomas Maya Mary, Yoganathan Sangeetha, Aaron Rekha, Jasper Anitha, Mannam Pavithra, Daniel Roshan, Danda Sumita

Abstract excerpt

LYRM7-associated mitochondrial complex III deficiency has classically been described in the literature as a childhood-onset episodic leukoencephalopathy with neuroimaging findings of cavitating periventricular and subcortical white matter loss. We describe the heterogeneous clinical and neuroimaging profile of six individuals from south India with the specific homozygous pathogenic variant in the LYRM7 gene...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Brain
Share to Electron Transport Complex III

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homozygote

Share to Leukoencephalopathies

Share to Magnetic Resonance Imaging

Share to Mitochondrial Diseases

Share to Mitochondrial Proteins

Source

Identifiers

PMID: 40317892
DOI: 10.1002/ajmg.a.64105

Genes

LYRM7

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Novel Presentation and Variable Phenotypic Spectrum of Homozygous Start-Loss Variant in LYRM7-Associated Mitochondrial Complex III Deficiency.PMID 40317892Read ↗

Multifocal cavitating leukodystrophy-A distinct image in mitochondrial LYRM7 mutations.Semantic proximity Read ↗

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.Semantic proximity Read ↗

Diagnosis by whole exome sequencing of atypical infantile onset Alexander disease masquerading as a mitochondrial disorder.Semantic proximity Read ↗

MPV17 Gene Variant Mutation Presenting as Leucoencephalopathy with Peripheral Neuropathy.Semantic proximity Read ↗

Phenotypic variation of TTC19-deficient mitochondrial complex III deficiency: a case report and literature review.Semantic proximity Read ↗

'The phenotypic conundrum of Trp748Ser variant in POLG gene: a report of two patients'.Semantic proximity Read ↗

Expanding the genotype-phenotype spectrum of ISCA2-related multiple mitochondrial dysfunction syndrome-cavitating leukoencephalopathy and prolonged survival.Semantic proximity Read ↗

NDUFS8-Related Leigh Syndrome Mimicking a Leukodystrophy.Semantic proximity Read ↗

Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations.Semantic proximity Read ↗

Recurrent Encephalopathy as a Form of Presentation of Transport Protein Particle Complex 11-Related Disease: A Family Matter.Semantic proximity Read ↗

An Atypical <em>SURF1</em> -Associated Leigh Syndrome Phenotype Presenting with Ocular Dyspraxia and Nocturnal DisturbancesSemantic proximity Read ↗

An Unusual Presentation of Leber Hereditary Optic Neuropathy-Plus Case Caused by a Novel DNAJC30 Variant.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.