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

Expanding the Clinical Spectrum of Mitochondrial Phosphate Carrier Deficiency: A Case Report With Literature Review.

American journal of medical genetics. Part A - 1 Feb 2026

Selamioglu Arzu, Altun Mazlum Akif, Bliven Kimberly, Ünverengil Gökçen, Güneş Dilek, Karaca Meryem, Balcı Mehmet Cihan, Gedikbaşı Asuman, Atalar Fatmahan, Gökçay Gülden

Abstract excerpt

Mitochondrial phosphate carrier (PiC) deficiency, caused by pathogenic variants in the SLC25A3 gene, is a rare autosomal recessive disorder primarily presenting with early-onset hypertrophic cardiomyopathy (HCMP), muscular hypotonia, and respiratory failure. This report presents a case of a 32-year-old female manifesting with HCMP and myopathy beyond the neonatal period. The patient's neuromotor development was...

Read the complete abstract on PubMed

Topics

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

Share to Cardiomyopathy, Hypertrophic
Share to Mitochondria

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mitochondrial Diseases

Share to Mitochondrial Myopathies

Share to Muscle Hypotonia

Share to Mutation

Share to Phenotype

Share to Phosphate Transport Proteins

Source

Identifiers

PMID: 40944834
DOI: 10.1002/ajmg.a.64259

Genes

SLC25A3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Expanding the Clinical Spectrum of Mitochondrial Phosphate Carrier Deficiency: A Case Report With Literature Review.PMID 40944834Read ↗

Mitochondrial phosphate-carrier deficiency mimicking infantile-onset Pompe disease.Semantic proximity Read ↗

Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation.Semantic proximity Read ↗

Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review.Semantic proximity Read ↗

Diagnosis and management of metabolic myopathiesSemantic proximity Read ↗

Expanding the Phenotype of TUFM -Related Combined Oxidative Phosphorylation Deficiency 4.Semantic proximity Read ↗

A novel pathogenic variant in the carnitine transporter gene, SLC22A5, in association with metabolic carnitine deficiency and cardiomyopathy features.Semantic proximity Read ↗

From Genotype to Phenotype: Investigating SLC22A5 Variants and Their Significance in Carnitine Deficiency: A Systematic Review Study.Semantic proximity Read ↗

Severe neonatal-onset PYROXD1-related myopathy with a novel homozygous missense variant: expanding the phenotypic spectrum.Semantic proximity Read ↗

Metabolic myopathies: a practical approachSemantic proximity Read ↗

Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and managementSemantic proximity Read ↗

A Novel SLC25A4 Variant Causing Mitochondrial Dysfunction, Myopathy and Cardiomyopathy: A Functional and Molecular Characterization.Semantic proximity Read ↗

Case report: Novel SCN4A variant associated with a severe congenital myasthenic syndrome/myopathy phenotypeSemantic proximity Read ↗

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