LMNA-associated myopathies: the Italian experience in a large cohort of patients.

doi:10.1212/WNL.0000000000000934

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

Community

Back to search

Article

LMNA-associated myopathies: the Italian experience in a large cohort of patients.

Neurology - 28 Oct 2014

Maggi Lorenzo, D'Amico Adele, Pini Antonella, Sivo Serena, Pane Marika, Ricci Giulia, Vercelli Liliana, D'Ambrosio Paola, Travaglini Lorena, Sala Simone, Brenna Greta, Kapetis Dimos, Scarlato Marina, Pegoraro Elena, Ferrari Maurizio, Toscano Antonio, Benedetti Sara, Bernasconi Pia, Colleoni Lara, Lattanzi Giovanna, Bertini Enrico, Mercuri Eugenio, Siciliano Gabriele, Rodolico Carmelo, Mongini Tiziana, Politano Luisa, Previtali Stefano C, Carboni Nicola, Mantegazza Renato, Morandi Lucia

Abstract excerpt

OBJECTIVES: Our aim was to conduct a comparative study in a large cohort of myopathic patients carrying LMNA gene mutations to evaluate clinical and molecular features associated with different phenotypes. METHODS: We performed a retrospective cohort study of 78 myopathic patients with LMNA mutation and 30 familial cases with LMNA mutation without muscle involvement. We analyzed features characterizing the...

Read the complete abstract on PubMed

Topics

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

Share to Mutation, Missense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cardiomyopathies

Share to Italy

Share to Lamin Type A

Share to Muscular Diseases

Share to Muscular Dystrophies

Share to Muscular Dystrophies, Limb-Girdle

Share to Muscular Dystrophy, Emery-Dreifuss

Source

Open in PubMed

Identifiers

PMID: 25274841
DOI: 10.1212/WNL.0000000000000934

Genes

LMNA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

LMNA-associated myopathies: the Italian experience in a large cohort of patients.PMID 25274841Read ↗

[Autosomal dominant limb-girdle muscular dystrophy associated with conduction defects (LGMD1B): a description of 8 new families with the LMNA gene mutations].Semantic proximity Read ↗

Myofibrillar myopathy due to dominant LMNA mutations: A report of 2 cases.Semantic proximity Read ↗

Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations.Semantic proximity Read ↗

LMNA cardiomyopathy: cell biology and genetics meet clinical medicineSemantic proximity Read ↗

Clinical, pathological, imaging, and genetic characterization in a Taiwanese cohort with limb-girdle muscular dystrophy.Semantic proximity Read ↗

High incidence of sudden death with conduction system and myocardial disease due to lamins A and C gene mutation.Semantic proximity Read ↗

Heart involvement in lamin A/C related diseases.Semantic proximity Read ↗

The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients.Semantic proximity Read ↗

LMNA mutations in Polish patients with dilated cardiomyopathy: prevalence, clinical characteristics, and in vitro studies.Semantic proximity Read ↗

Recent insights in striated muscle laminopathies.Semantic proximity Read ↗

Cardiac manifestations of congenital LMNA-related muscular dystrophy in children: three case reports and recommendations for care.Semantic proximity Read ↗

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