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

A case of congenital myopathy accompanied by tremor due to a MYBPC1 mutation.

Pediatrics international : official journal of the Japan Pediatric Society - 1 Jan 2022

Shiraishi Kazuhiro, Tsuburaya Rie S, Mukaida Shoichi, Yano Naoko, Yoshida Takeshi

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Muscle, Skeletal
Share to Muscular Diseases
Share to Mutation
Share to Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Tremor

Source

Identifiers

PMID: 35510679
DOI: 10.1111/ped.15061

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

A case of congenital myopathy accompanied by tremor due to a MYBPC1 mutation.PMID 35510679Read ↗

Congenital tremor and myopathy secondary to novel MYBPC1 variant.Semantic proximity Read ↗

A Case Series of Patients With MYBPC1 Gene Variants Featuring Undulating Tongue Movements as Myogenic Tremor.Semantic proximity Read ↗

CACNA1S mutation associated with a case of juvenile-onset congenital myopathy.Semantic proximity Read ↗

Novel TTN Mutation Causing Congenital Myopathy.Semantic proximity Read ↗

A TPM3 mutation causing cap myopathySemantic proximity Read ↗

Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposisSemantic proximity Read ↗

A Novel Homozygous TBC1D24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement.Semantic proximity Read ↗

Myopathy as the first symptom of hypokalemic periodic paralysis--case report of a girl from a Polish family with CACNA1S (R1239G) mutation.Semantic proximity Read ↗

Congenital myopathies with secondary neuromuscular transmission defects; a case report and review of the literature.Semantic proximity Read ↗

Congenital Myasthenic Syndrome due to a Novel Mutation in CHAT Gene.Semantic proximity Read ↗

Congenital myopathy with fiber-type disproportion accompanied by dilated cardiomyopathy in a patient with a novel p.G48A ACTA1 mutation.Semantic proximity Read ↗

[Unusual phenotype of myopathy associated with a new PNPLA2 mutation].Semantic proximity Read ↗

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