Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.

doi:10.1093/brain/awv352

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

Community

Back to search

Article

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.

Brain : a journal of neurology - 1 Mar 2016

Zaharieva Irina T, Thor Michael G, Oates Emily C, van Karnebeek Clara, Hendson Glenda, Blom Eveline, Witting Nanna, Rasmussen Magnhild, Gabbett Michael T, Ravenscroft Gianina, Sframeli Maria, Suetterlin Karen, Sarkozy Anna, D'Argenzio Luigi, Hartley Louise, Matthews Emma, Pitt Matthew, Vissing John, Ballegaard Martin, Krarup Christian, Slørdahl Andreas, Halvorsen Hanne, Ye Xin Cynthia, Zhang Lin-Hua, Løkken Nicoline, Werlauff Ulla, Abdelsayed Mena, Davis Mark R, Feng Lucy, Phadke Rahul, Sewry Caroline A, Morgan Jennifer E, Laing Nigel G, Vallance Hilary, Ruben Peter, Hanna Michael G, Lewis Suzanne, Kamsteeg Erik-Jan, Männikkö Roope, Muntoni Francesco

Abstract excerpt

Congenital myopathies are a clinically and genetically heterogeneous group of muscle disorders characterized by congenital or early-onset hypotonia and muscle weakness, and specific pathological features on muscle biopsy. The phenotype ranges from foetal akinesia resulting in in utero or neonatal mortality, to milder disorders that are not life-limiting. Over the past decade, more than 20 new congenital myopathy...

Read the complete abstract on PubMed

Topics

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

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to HEK293 Cells

Share to Infant, Newborn

Share to Myopathies, Structural, Congenital

Share to NAV1.4 Voltage-Gated Sodium Channel

Share to Pedigree

Share to Severity of Illness Index

Share to Xenopus laevis

Source

Open in PubMed Open full text

Identifiers

PMID: 26700687
DOI: 10.1093/brain/awv352
PMCID: PMC4766374

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.PMID 26700687Read ↗

Congenital myopathy with "corona" fibres, selective muscle atrophy, and craniosynostosis associated with novel recessive mutations in SCN4A.Semantic proximity Read ↗

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

Expanding the spectrum of congenital myopathy linked to recessive mutations in SCN4A.Semantic proximity Read ↗

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

Novel human pathological mutations. Gene symbol: SCN1A. Disease: severe myoclonic epilepsy of infancy.Semantic proximity Read ↗

Pathological defects in congenital myopathies.Semantic proximity Read ↗

Recent advances in understanding congenital myopathiesSemantic proximity Read ↗

Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrumSemantic proximity Read ↗

Sodium Channelopathies of Skeletal Muscle.Semantic proximity Read ↗

Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study.Semantic proximity Read ↗

Hypokalemic periodic paralysis: novel perspectives from genetic mutations to clinical management.Semantic proximity Read ↗

A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis.Semantic proximity Read ↗

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