Literature DB >> 22006699

Dilated cardiomyopathy with conduction defects in a patient with partial merosin deficiency due to mutations in the laminin-α2-chain gene: a chance association or a novel phenotype?

Nicola Carboni1, Giovanni Marrosu, Maurizio Porcu, Anna Mateddu, Elisabetta Solla, Eleonora Cocco, Maria A Maioli, Valentina Oppo, Rachele Piras, Maria G Marrosu.   

Abstract

Patients with a partial reduction of merosin due to mutations in the laminin-α2 chain gene usually present with a mild form of congenital muscular dystrophy or a limb-girdle-like muscular dystrophy. To our knowledge, cardiac impairment has never been reported in such patients. A longitudinal study of a patient with partial laminin-α2 deficiency secondary to mutations in the LAMA2 gene revealed dilated cardiomyopathy with ventricular arrhythmias. Is this a chance association or a novel phenotype?
Copyright © 2011 Wiley Periodicals, Inc.

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Year:  2011        PMID: 22006699     DOI: 10.1002/mus.22228

Source DB:  PubMed          Journal:  Muscle Nerve        ISSN: 0148-639X            Impact factor:   3.217


  14 in total

1.  Prospect of gene therapy for cardiomyopathy in hereditary muscular dystrophy.

Authors:  Yongping Yue; Ibrahim M Binalsheikh; Stacey B Leach; Timothy L Domeier; Dongsheng Duan
Journal:  Expert Opin Orphan Drugs       Date:  2015-12-17       Impact factor: 0.694

Review 2.  Heart Disease in Disorders of Muscle, Neuromuscular Transmission, and the Nerves.

Authors:  Josef Finsterer; Claudia Stöllberger
Journal:  Korean Circ J       Date:  2016-03-21       Impact factor: 3.243

3.  Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases.

Authors:  Isabelle Nelson; Tanya Stojkovic; Valérie Allamand; France Leturcq; Henri-Marc Bécane; Dominique Babuty; Annick Toutain; Christophe Béroud; Pascale Richard; Norma B Romero; Bruno Eymard; Rabah Ben Yaou; Gisèle Bonne
Journal:  J Neuromuscul Dis       Date:  2015-09-02

4.  Newborn blood DNA epigenetic variations and signaling pathway genes associated with Tetralogy of Fallot (TOF).

Authors:  Uppala Radhakrishna; Sangeetha Vishweswaraiah; Avinash M Veerappa; Rita Zafra; Samet Albayrak; Prajna H Sitharam; Nazia M Saiyed; Nitish K Mishra; Chittibabu Guda; Ray Bahado-Singh
Journal:  PLoS One       Date:  2018-09-13       Impact factor: 3.240

5.  Enhanced cardiac repair by telomerase reverse transcriptase over-expression in human cardiac mesenchymal stromal cells.

Authors:  Thi Yen Loan Le; Hilda A Pickett; Andrian Yang; Joshua W K Ho; Sujitha Thavapalachandran; Sindhu Igoor; Sile F Yang; Melad Farraha; Holly K Voges; James E Hudson; Cristobal G Dos Remedios; Tracy M Bryan; Eddy Kizana; James J H Chong
Journal:  Sci Rep       Date:  2019-07-22       Impact factor: 4.379

6.  Limb girdle muscular dystrophy due to LAMA2 gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis.

Authors:  Francesca Magri; Roberta Brusa; Luca Bello; Lorenzo Peverelli; Roberto Del Bo; Alessandra Govoni; Claudia Cinnante; Irene Colombo; Francesco Fortunato; Roberto Tironi; Stefania Corti; Nadia Grimoldi; Monica Sciacco; Nereo Bresolin; Elena Pegoraro; Maurizio Moggio; Giacomo Pietro Comi
Journal:  Acta Myol       Date:  2020-06-01

Review 7.  Genetics of Human and Canine Dilated Cardiomyopathy.

Authors:  Siobhan Simpson; Jennifer Edwards; Thomas F N Ferguson-Mignan; Malcolm Cobb; Nigel P Mongan; Catrin S Rutland
Journal:  Int J Genomics       Date:  2015-07-22       Impact factor: 2.326

8.  Genetic modifiers to the PLN L39X mutation in a patient with DCM and sustained ventricular tachycardia?

Authors:  Despina Sanoudou; Fotis Kolokathis; Demetris Arvanitis; Kholoud Al-Shafai; Navaneethakrishnan Krishnamoorthy; Rachel J Buchan; Roddy Walsh; Dimitris Tsiapras; Paul Jr Barton; Stuart A Cook; Dimitrios Kremastinos; Magdi Yacoub
Journal:  Glob Cardiol Sci Pract       Date:  2015-07-03

9.  miR-410 and miR-495 Are Dynamically Regulated in Diverse Cardiomyopathies and Their Inhibition Attenuates Pathological Hypertrophy.

Authors:  Amanda L Clark; Sonomi Maruyama; Soichi Sano; Anthony Accorsi; Mahasweta Girgenrath; Kenneth Walsh; Francisco J Naya
Journal:  PLoS One       Date:  2016-03-21       Impact factor: 3.240

Review 10.  Genomic Insights into Cardiomyopathies: A Comparative Cross-Species Review.

Authors:  Siobhan Simpson; Paul Rutland; Catrin Sian Rutland
Journal:  Vet Sci       Date:  2017-03-21
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