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

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

Neuromuscular disorders : NMD - 1 Jun 2017

Gonorazky Hernan D, Marshall Christian R, Al-Murshed Maryam, Hazrati Lili-Naz, Thor Michael G, Hanna Michael G, Männikkö Roope, Ray Peter N, Yoon Grace

Abstract excerpt

We describe two brothers with lower facial weakness, highly arched palate, scaphocephaly due to synostosis of the sagittal and metopic sutures, axial hypotonia, proximal muscle weakness, and mild scoliosis. The muscle MRI of the younger sibling revealed a selective pattern of atrophy of the gluteus maximus, adductor magnus and soleus muscles. Muscle biopsy of the younger sibling revealed myofibres with...

Read the complete abstract on PubMed

Topics

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

Share to Craniosynostoses
Share to Exome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Recessive

Share to HEK293 Cells

Share to Muscular Atrophy

Share to Myotonia Congenita

Share to NAV1.4 Voltage-Gated Sodium Channel

Share to Pedigree

Source

Identifiers

PMID: 28262468
DOI: 10.1016/j.nmd.2017.02.001

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

Congenital myopathy with "corona" fibres, selective muscle atrophy, and craniosynostosis associated with novel recessive mutations in SCN4A.PMID 28262468Read ↗

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

Congenital Myopathy as a Phenotypic Expression of CACNA1S Gene Mutation: Case Report and Systematic Review of the Literature.Semantic proximity Read ↗

Sodium Channelopathies of Skeletal Muscle.Semantic proximity Read ↗

Novel Mutations in SCN4A Gene Cause Myotonia Congenita with Scoliosis.Semantic proximity Read ↗

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

Novel pathogenic variants and genes for myopathies identified by whole exome sequencingSemantic proximity Read ↗

Clinical and genetic spectrum of a Chinese cohort with SCN4A gene mutations.Semantic proximity Read ↗

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

Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum.Semantic proximity Read ↗

Clinical comparison and functional study of the L703P: a recurrent mutation in human SCN4A that causes sodium channel myotonia.Semantic proximity Read ↗

Asymmetric muscle weakness due to ACTA1 mosaic mutationsSemantic proximity Read ↗

Extending the Phenotype Related to SCN1A Gene: Arthrogryposis, Movement Disorders, and Malformations of Cortical Development.Semantic proximity Read ↗

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