Discover Community Create You

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

An infant case of diffuse cerebrospinal lesions and cardiomyopathy caused by a BOLA3 mutation.

Brain & development - 1 Jun 2018

Nishioka Makoto, Inaba Yuji, Motobayashi Mitsuo, Hara Yosuke, Numata Ryusuke, Amano Yoshiro, Shingu Kunihiko, Yamamoto Yoichiro, Murayama Kei, Ohtake Akira, Nakazawa Yozo

Abstract excerpt

INTRODUCTION: Mitochondrial dysfunction results in a wide range of organ disorders through diverse genetic abnormalities. We herein present the detailed clinical course of an infant admitted for extensive, rapidly progressing white matter lesions and hypertrophic cardiomyopathy due to a BOLA3 gene mutation. CASE: A 6-month-old girl with no remarkable family or past medical history until 1 month prior presented...

Read the complete abstract on PubMed

Topics

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

Share to Brain Diseases
Share to Cardiomyopathy, Hypertrophic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fatal Outcome

Share to Infant

Share to Mitochondrial Proteins

Share to Mutation

Share to Proteins

Share to Spinal Cord Diseases

Source

Identifiers

PMID: 29501406
DOI: 10.1016/j.braindev.2018.02.004

Genes

BOLA3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

An infant case of diffuse cerebrospinal lesions and cardiomyopathy caused by a BOLA3 mutation.PMID 29501406Read ↗

Clinical characteristics of a case of multiple mitochondrial dysfunction syndrome 3.Semantic proximity Read ↗

Phenotypic spectrum of iron-sulfur cluster assembly gene IBA57 mutations: c.286 T > C identified as a hotspot mutation in Chinese patients with a stable natural history.Semantic proximity Read ↗

Phenotypic spectrum of iron-sulfur cluster assembly gene IBA57 mutations: c.286T>C identified as a hotspot mutation in Chinese patients with a stable natural historySemantic proximity Read ↗

Severity of ATAD3A-related pontocerebellar hypoplasia correlates with the severity of pathogenic variantsSemantic proximity Read ↗

Fulminant neurological deterioration in a neonate with Leigh syndrome due to a maternally transmitted missense mutation in the mitochondrial ND3 gene.Semantic proximity Read ↗

Identification of a novel pathogenic gene, NDUFA3, in Leigh Syndrome through whole exome sequencing.Semantic proximity Read ↗

Multiple Mitochondrial Dysfunction Syndrome Type 3: A Likely Pathogenic Homozygous Variant Affecting a Patient of Cuban Descent and Literature Review.Semantic proximity Read ↗

ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability.Semantic proximity Read ↗

Retrospective analysis of isobutyryl CoA dehydrogenase deficiency.Semantic proximity Read ↗

Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.Semantic proximity Read ↗

BAG3-related myofibrillar myopathy: a further observation with cardiomyopathy at onset in pediatric age.Semantic proximity Read ↗

Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model.Semantic proximity Read ↗

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