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Article

A Case of Novel Lamin A/C Mutation Manifesting as Atypical Progeroid Syndrome and Cardiomyopathy.

The Canadian journal of cardiology - 1 Sept 2016

Guo Xiaoxiao, Ling Chao, Liu Yongtai, Zhang Xue, Zhang Shuyang

Abstract excerpt

Mutations in the gene LMNA cause a wide spectrum of diseases that selectively affect different tissues and organ systems. The clinical features of these disorders can overlap but be generally categorized into 2 groups: cardiomyopathy and neuromuscular disorders; premature aging and lipodystrophy disorders. It is significant for a single patient who harbours the 2 sets of diseases simultaneously. We present a...

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Source

Identifiers

PMID: 27265359
DOI: 10.1016/j.cjca.2015.11.011

Genes

LMNA

Variants

Provenance

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

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A Case of Novel Lamin A/C Mutation Manifesting as Atypical Progeroid Syndrome and Cardiomyopathy.PMID 27265359Read ↗

Ovarian failure and dilated cardiomyopathy due to a novel lamin mutation.Semantic proximity Read ↗

Looking at New Unexpected Disease Targets in LMNA-Linked Lipodystrophies in the Light of Complex Cardiovascular Phenotypes: Implications for Clinical Practice.Semantic proximity Read ↗

Novel clinical features and pleiotropic effect in three unrelated patients with LMNA variant.Semantic proximity Read ↗

A recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformities.Semantic proximity Read ↗

A novel overlapping phenotype characterized by lipodystrophy, mandibular dysplasia, and dilated cardiomyopathy associated with a new mutation in the LMNA gene.Semantic proximity Read ↗

A subtype of laminopathies: Generalized lipodystrophy-associated progeroid syndrome caused by LMNA gene c.29C>T mutation.Semantic proximity Read ↗

Lamin A/C mutations in dilated cardiomyopathy.Semantic proximity Read ↗

Lipodystrophic syndromes due to LMNA mutations: recent developments on biomolecular aspects, pathophysiological hypotheses and therapeutic perspectives.Semantic proximity Read ↗

A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation.Semantic proximity Read ↗

Multisystem disorder and limb girdle muscular dystrophy caused by LMNA p.R28W mutation.Semantic proximity Read ↗

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

An inherited LMNA gene mutation in atypical Progeria syndrome.Semantic proximity Read ↗

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