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 myopathies with secondary neuromuscular transmission defects; a case report and review of the literature.

Neuromuscular disorders : NMD - 1 Dec 2014

Rodríguez Cruz Pedro M, Sewry Caroline, Beeson David, Jayawant Sandeep, Squier Waney, McWilliam Robert, Palace Jacqueline

Abstract excerpt

Congenital myopathies are a clinically and genetically heterogeneous group of disorders characterized by early onset hypotonia, weakness and characteristic, but not pathognomonic, structural abnormalities in muscle fibres. The clinical features overlap with muscular dystrophies, myofibrillar myopathies, neurogenic conditions and congenital myasthenic syndromes. We describe a case of cap myopathy with myasthenic...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Cholinesterase Inhibitors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscle, Skeletal

Share to Mutation

Share to Myopathies, Structural, Congenital

Share to Tropomyosin

Source

Identifiers

PMID: 25127990
DOI: 10.1016/j.nmd.2014.07.005

Genes

TPM2

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 myopathies with secondary neuromuscular transmission defects; a case report and review of the literature.PMID 25127990Read ↗

Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2).Semantic proximity Read ↗

A TPM3 mutation causing cap myopathySemantic proximity Read ↗

Myopathies associated with β-tropomyosin mutations.Semantic proximity Read ↗

Cap disease due to mutation of the beta-tropomyosin gene (TPM2).Semantic proximity Read ↗

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

New morphologic and genetic findings in cap disease associated with beta-tropomyosin (TPM2) mutations.Semantic proximity Read ↗

Novel TPM3 mutation in a family with cap myopathy and review of the literature.Semantic proximity Read ↗

Frequency and phenotype of patients carrying TPM2 and TPM3 gene mutations in a cohort of 94 patients with congenital myopathy.Semantic proximity Read ↗

Congenital myopathies: disorders of excitation–contraction coupling and muscle contractionSemantic proximity Read ↗

Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms.Semantic proximity Read ↗

Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1.Semantic proximity Read ↗

Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3.Semantic proximity Read ↗

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