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

Biallelic P4HTM variants associated with HIDEA syndrome and mitochondrial respiratory chain complex I deficiency.

European journal of human genetics : EJHG - 1 Oct 2021

Hay Eleanor, Wilson Louise C, Hoskins Bethan, Samuels Martin, Munot Pinki, Rahman Shamima

Abstract excerpt

We report a patient with profound congenital hypotonia, central hypoventilation, poor visual behaviour with retinal hypopigmentation, and significantly decreased mitochondrial respiratory chain complex I activity in muscle, who died at 7 months of age having made minimal developmental progress. Biallelic predicted truncating P4HTM variants were identified following trio whole-genome sequencing, consistent with a...

Read the complete abstract on PubMed

Topics

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

Share to Electron Transport Complex I
Share to Epilepsy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Eye Abnormalities

Share to Infant

Share to Intellectual Disability

Share to Muscle Hypotonia

Share to Mutation

Share to Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 34285383
DOI: 10.1038/s41431-021-00932-8
PMCID: PMC8484625

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Biallelic P4HTM variants associated with HIDEA syndrome and mitochondrial respiratory chain complex I deficiency.PMID 34285383Read ↗

Further delineation of HIDEA syndrome.Semantic proximity Read ↗

HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H-TM protein.Semantic proximity Read ↗

Ophthalmic manifestations of mitochondrial disorders.Semantic proximity Read ↗

HIDEA Syndrome: A rare cause of congenital hypoventilation in a premature infantSemantic proximity Read ↗

Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults.Semantic proximity Read ↗

Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation.Semantic proximity Read ↗

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

Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis.Semantic proximity Read ↗

MSTO1-related mitochondrial myopathy and ataxia syndrome: Case series and literature review.Semantic proximity Read ↗

OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect.Semantic proximity Read ↗

Expanding the Genetic and Phenotypic Spectrum of POLRMT-Related Mitochondrial Disease.Semantic proximity Read ↗

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

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