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

Novel LMNA mutation presenting as severe congenital muscular dystrophy.

Pediatric neurology - 1 Oct 2010

Prigogine Cynthia, Richard Pascale, Van den Bergh Peter, Groswasser José, Deconinck Nicolas

Abstract excerpt

Mutations in the lamin A/C gene determine a heterogeneous group of congenital diseases, termed laminopathies, consisting of more than 15 phenotypes, including autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy type 1B. Early onset in infancy has been described in these muscular dystrophies. Reported here is a 7-year-old male with congenital muscular dystrophy. Remarkably,...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to LMNA gene
Share to Immunohistochemistry

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Lamin Type A

Share to Muscle Weakness

Share to Muscular Dystrophies

Share to Mutation

Source

Identifiers

PMID: 20837309
DOI: 10.1016/j.pediatrneurol.2010.05.016

Genes

LMNA

Variants

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

Novel LMNA mutation presenting as severe congenital muscular dystrophy.PMID 20837309Read ↗

De novo LMNA mutations cause a new form of congenital muscular dystrophy.Semantic proximity Read ↗

The most severe form of LMNA-associated congenital muscular dystrophy.Semantic proximity Read ↗

Dilated cardiomyopathy and skeletal myopathy: presenting features of a laminopathy.Semantic proximity Read ↗

Is the Next Generation Sequencing the Essential Tool for the Early Diagnostic Approach in Congenital Muscular Dystrophy? New Mutation in the Gen LMNA Associated with Serious Phenotype.Semantic proximity Read ↗

Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant.Semantic proximity Read ↗

Mutations in the LMNA gene encoding lamin A/C.Semantic proximity Read ↗

Floppy infant syndrome as a first manifestation of LMNA-related congenital muscular dystrophy.Semantic proximity Read ↗

Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy.Semantic proximity Read ↗

Phenotypic clustering of lamin A/C mutations in neuromuscular patients.Semantic proximity Read ↗

Novel mutations in LMNA A/C gene and associated phenotypes.Semantic proximity Read ↗

Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophy.Semantic proximity Read ↗

Skeletal Muscle Laminopathies: A Review of Clinical and Molecular FeaturesSemantic proximity Read ↗

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