[HTML][HTML] Cardiac involvement in Duchenne and Becker muscular dystrophy

S Mavrogeni, G Markousis-Mavrogenis… - World journal of …, 2015 - ncbi.nlm.nih.gov
Duchenne and Becker muscular dystrophy (DMD/BMD) are X-linked muscular diseases
responsible for over 80% of all muscular dystrophies. Cardiac disease is a common …

Limb girdle muscular dystrophies: classification, clinical spectrum and emerging therapies

J Vissing - Current opinion in neurology, 2016 - journals.lww.com
Limb girdle muscular dystrophies: classification, clinical s... : Current Opinion in Neurology
Limb girdle muscular dystrophies: classification, clinical spectrum and emerging therapies …

2022 HRS expert consensus statement on evaluation and management of arrhythmic risk in neuromuscular disorders

WJ Groh, D Bhakta, GF Tomaselli, RG Aleong… - Heart Rhythm, 2022 - Elsevier
This international multidisciplinary document is intended to guide electrophysiologists,
cardiologists, other clinicians, and health care professionals in caring for patients with …

Human dental pulp pluripotent-like stem cells promote wound healing and muscle regeneration

E Martínez-Sarrà, S Montori, C Gil-Recio… - Stem cell research & …, 2017 - Springer
Background Dental pulp represents an easily accessible autologous source of adult stem
cells. A subset of these cells, named dental pulp pluripotent-like stem cells (DPPSC), shows …

Dilated cardiomyopathy caused by truncating titin variants: long-term outcomes, arrhythmias, response to treatment and sex differences

CR Vissing, TB Rasmussen, AM Dybro… - Journal of Medical …, 2021 - jmg.bmj.com
Background Truncating variants in titin (TTNtv) are the most common cause of dilated
cardiomyopathy (DCM). We evaluated the genotype-phenotype correlation in TTNtv-DCM …

Ion channel dysfunctions in dilated cardiomyopathy in limb-girdle muscular dystrophy

I El-Battrawy, Z Zhao, H Lan, X Li, G Yücel… - Circulation: Genomic …, 2018 - Am Heart Assoc
Background: Limb-Girdle muscular dystrophies (LGMD) are a heritable group of genetically
determined disorders with a primary involvement of the pelvic or shoulder girdle …

Natural history of cardiac and respiratory involvement, prognosis and predictive factors for long-term survival in adult patients with limb girdle muscular dystrophies …

A Fayssoil, A Ogna, C Chaffaut, S Chevret… - PloS one, 2016 - journals.plos.org
Background Type 2C and 2D limb girdle muscular dystrophies (LGMD) are a group of
autosomal recessive limb girdle muscular dystrophies manifested by proximal myopathy …

Cardiomyopathy in limb girdle muscular dystrophy R9, FKRP related

EM Libell, JA Richardson, KL Lutz, BY Ng… - Muscle & …, 2020 - Wiley Online Library
Introduction Reported frequencies of cardiomyopathy in limb girdle muscular dystrophy R9
(LGMDR9) vary. We describe the frequency and age at onset of cardiomyopathy in an …

Limb girdle muscular dystrophy due to mutations in POMT2

ST Østergaard, K Johnson, T Stojkovic… - Journal of Neurology …, 2018 - jnnp.bmj.com
Background Mutations in the gene coding for protein O-mannosyl-transferase 2 (POMT2)
are known to cause severe congenital muscular dystrophy, and recently, mutations in …

Skeletal muscle involvement in patients with truncations of titin and familial dilated cardiomyopathy

SV Skriver, B Krett, NS Poulsen, T Krag, HR Walas… - Heart Failure, 2024 - jacc.org
Background Genetic variants in titin (TTN) are associated with dilated cardiomyopathy
(DCM) and skeletal myopathy. However, the skeletal muscle phenotype in individuals …