(Q58381690)

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Malignant mutation in the lamin A/C gene causing progressive conduction system disease and early sudden death in a family with mild form of limb-girdle muscular dystrophy

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17605093%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Malignant mutation in the lamin A/C gene causing progressive conduction system disease and early sudden death in a family with mild form of limb-girdle muscular dystrophy (English)

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17605093%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

limb-girdle muscular dystrophy

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based on heuristic

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Christos Eftychiou

2

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17605093%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Kyproula Christodoulou

4

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1 January 2020

author name string

Loizos Antoniades

1

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1 January 2020

Theodoros Kyriakides

3

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1 January 2020

Demosthenes G Katritsis

5

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1 January 2020

publication date

29 June 2007

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1 January 2020

Journal of Interventional Cardiac Electrophysiology

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17605093%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

19

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1 January 2020

1

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1 January 2020

1-7

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1 January 2020

Inner nuclear membrane proteins: functions and targeting

1 reference

https://pubmed.ncbi.nlm.nih.gov/17605093

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lamins in disease: why do ubiquitously expressed nuclear envelope proteins give rise to tissue-specific disease phenotypes?

1 reference

https://pubmed.ncbi.nlm.nih.gov/17605093

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lamin A/C truncation in dilated cardiomyopathy with conduction disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/17605093

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Natural history of dilated cardiomyopathy due to lamin A/C gene mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/17605093

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Guidelines for the study of familial dilated cardiomyopathies. Collaborative Research Group of the European Human and Capital Mobility Project on Familial Dilated Cardiomyopathy.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17605093

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Severe dilated cardiomyopathy and quadriceps myopathy due to lamin A/C gene mutation: a phenotypic study

1 reference

https://pubmed.ncbi.nlm.nih.gov/17605093

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cardiac dysrhythmias,cardiomyopathy and muscular dystrophy in patients with Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy type 1B.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17605093

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cardiomyopathies: from genetics to the prospect of treatment

1 reference

https://pubmed.ncbi.nlm.nih.gov/17605093

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The congenital and limb-girdle muscular dystrophies: sharpening the focus, blurring the boundaries

1 reference

https://pubmed.ncbi.nlm.nih.gov/17605093

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p

1 reference

https://pubmed.ncbi.nlm.nih.gov/17605093

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High Incidence of Sudden Death with Conduction System and Myocardial Disease Due to Lamins A and C Gene Mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/17605093

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/17605093

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Often seen but rarely recognised: cardiac complications of lamin A/C mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/17605093

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17605093

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The A-type lamins: nuclear structural proteins as a focus for muscular dystrophy and cardiovascular diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/17605093

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Primary prevention of sudden death in patients with lamin A/C gene mutations.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17605093

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse

1 reference

https://pubmed.ncbi.nlm.nih.gov/17605093

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death?

1 reference

https://pubmed.ncbi.nlm.nih.gov/17605093

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Many roads lead to a broken heart: the genetics of dilated cardiomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/17605093

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal dominant limb-girdle muscular dystrophy associated with conduction defects (LGMD1B): a description of 8 new families with the LMNA gene mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/17605093

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel mutation, Ser143Pro, in the lamin A/C gene is common in finnish patients with familial dilated cardiomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/17605093

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/17605093

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nuclear lamins: their structure, assembly, and interactions

1 reference

https://pubmed.ncbi.nlm.nih.gov/17605093

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/17605093

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multilocus linkage analysis in humans: detection of linkage and estimation of recombination

1 reference

https://pubmed.ncbi.nlm.nih.gov/17605093

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17605093

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/17605093

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnostic criteria for the limb-girdle muscular dystrophies: report of the ENMC Consortium on Limb-Girdle Dystrophies

1 reference

https://pubmed.ncbi.nlm.nih.gov/17605093

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lamin A/C Gene Mutation Associated With Dilated Cardiomyopathy With Variable Skeletal Muscle Involvement

1 reference

https://pubmed.ncbi.nlm.nih.gov/17605093

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17605093

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recommendations for a standardized report for adult transthoracic echocardiography: a report from the American Society of Echocardiography's Nomenclature and Standards Committee and Task Force for a Standardized Echocardiography Report

1 reference

https://pubmed.ncbi.nlm.nih.gov/17605093

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10840-007-9133-X

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17605093%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17605093%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

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