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Identification of lamin A/C ( LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B.

Journal of human genetics - 1 Jan 2002

Ki Chang-Seok, Hong Jong Seo, Jeong Gyu-Young, Ahn Kyoung Ju, Choi Kwang-Mo, Kim Duk-Kyung, Kim Jung-Won

Abstract excerpt

Mutations in the LMNA gene encoding lamins A and C by alternative splicing have been found to cause at least four different kinds of genetic disorders: autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD2; MIM 181350); limb-girdle muscular dystrophy type 1B (LGMD1B; MIM 159001); dilated cardiomyopathy type 1A (CMD1A; MIM 115200); and familial partial lipodystrophy (FPLD; MIM 151660). Recently, we have...

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Identifiers

PMID: 12032588
DOI: 10.1007/s100380200029

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LMNA

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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.

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Identification of lamin A/C ( LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B.PMID 12032588Read ↗

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

Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.Semantic proximity Read ↗

Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations.Semantic proximity Read ↗

Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report.Semantic proximity Read ↗

Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing.Semantic proximity Read ↗

Phenotype-Genotype Analysis of Chinese Patients with Early-Onset LMNA-Related Muscular Dystrophy.Semantic proximity Read ↗

Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B).Semantic proximity Read ↗

Novel LMNA mutation in a Taiwanese family with autosomal dominant Emery-Dreifuss muscular dystrophy.Semantic proximity Read ↗

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

Genetic and clinical characteristics of skeletal and cardiac muscle in patients with lamin A/C gene mutations.Semantic proximity Read ↗

Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.Semantic proximity Read ↗

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy.Semantic proximity Read ↗

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