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

Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia.

Journal of medical genetics - 1 Apr 2016

Watson Christopher M, Crinnion Laura A, Murphy Helen, Newbould Melanie, Harrison Sally M, Lascelles Carolina, Antanaviciute Agne, Carr Ian M, Sheridan Eamonn, Bonthron David T, Smith Audrey

Abstract excerpt

BACKGROUND: Lethal fetal akinesia deformation sequence (FADS) describes a clinically and genetically heterogeneous phenotype that includes fetal akinesia, intrauterine growth retardation, arthrogryposis and developmental anomalies. Affected babies die as a result of pulmonary hypoplasia. We aimed to identify the underlying genetic cause of this disorder in a family in which there were three affected individuals...

Read the complete abstract on PubMed

Topics

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

Share to Aborted Fetus
Share to Arthrogryposis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fetal Growth Retardation

Share to High-Throughput Nucleotide Sequencing

Share to MyoD Protein

Share to Pregnancy

Source

Open in PubMed Open full text

Identifiers

PMID: 26733463
DOI: 10.1136/jmedgenet-2015-103620
PMCID: PMC4819622

Genes

MYOD1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia.PMID 26733463Read ↗

MuSK: a new target for lethal fetal akinesia deformation sequence (FADS).Semantic proximity Read ↗

Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.Semantic proximity Read ↗

The evolving genetic landscape of neuromuscular fetal akinesiasSemantic proximity Read ↗

The genomic and clinical landscape of fetal akinesia.Semantic proximity Read ↗

Identification ofKLHL40mutations by targeted next-generation sequencing facilitated a prenatal diagnosis in a family with three consecutive affected fetuses with fetal akinesia deformation sequenceSemantic proximity Read ↗

Massive parallel sequencing identifies RAPSN and PDHA1 mutations causing fetal akinesia deformation sequence.Semantic proximity Read ↗

Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy.Semantic proximity Read ↗

Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birthSemantic proximity Read ↗

Fetal akinesia: review of the genetics of the neuromuscular causes.Semantic proximity Read ↗

SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancySemantic proximity Read ↗

Clinical and molecular characteristics of 26 fetuses with lethal multiple congenital contractures.Semantic proximity Read ↗

Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics.Semantic proximity Read ↗

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