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

Progression or Not - A Small Natural History Study of Genetical Confirmed Congenital Myopathies.

Journal of neuromuscular diseases - 1 Jan 2021

Werlauff Ulla, Hansen Pernille Diemer, Witting Nanna, Vissing John

Abstract excerpt

BACKGROUND: Clinical characteristics of patients with congenital myopathies (CM) are well known but there is a lack of knowledge about the natural history and course of disease of the different genetic subtypes. In 2010 we assessed the national cohort of Danish patients with CM to decide genetic diagnosing and describe genotype- phenotype relationships.AIM of this follow-up study was to evaluate the course of...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Cohort Studies
Share to Disease Progression

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Follow-Up Studies

Share to Muscle Proteins

Share to Myopathies, Structural, Congenital

Share to Phenotype

Share to Young Adult

Source

Identifiers

PMID: 33646172
DOI: 10.3233/JND-200574

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Progression or Not - A Small Natural History Study of Genetical Confirmed Congenital Myopathies.PMID 33646172Read ↗

Disease Trajectories of a Large French Cohort of 142 Congenital Myopathy Patients in Adult Age.Semantic proximity Read ↗

Phenotype-Genotype Correlation of a Cohort of Patients with Congenital Myopathy: A Single Centre Experience from India.Semantic proximity Read ↗

Phenotypes, genotypes, and prevalence of congenital myopathies older than 5 years in DenmarkSemantic proximity Read ↗

Clinical and genetic features of infancy-onset congenital myopathies from a Chinese paediatric centre.Semantic proximity Read ↗

Update on the Genetics of Congenital MyopathiesSemantic proximity Read ↗

Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom.Semantic proximity Read ↗

Characterization of congenital myopathies at a Korean neuromuscular center.Semantic proximity Read ↗

A Cross-Sectional Study of Nemaline Myopathy.Semantic proximity Read ↗

Long-term Natural History of Pediatric Dominant and Recessive RYR1-Related Myopathy.Semantic proximity Read ↗

Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution.Semantic proximity Read ↗

Pearls & Oy-sters: Hickam's Dictum in Genetic Myopathies: When a Proven Pathogenic Mutation Does Not Explain the Phenotype.Semantic proximity Read ↗

Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures.Semantic proximity Read ↗

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