Female dystrophinopathy: Review of current literature

M Ishizaki, M Kobayashi, K Adachi, T Matsumura… - Neuromuscular …, 2018 - Elsevier
Skeletal muscle or cardiac symptoms are known to appear in a certain proportion of female
patients carrying the dystrophin gene mutation. There is limited high-quality evidence to …

Cardiac involvement in dystrophin-deficient females: current understanding and implications for the treatment of dystrophinopathies

KRQ Lim, N Sheri, Q Nguyen, T Yokota - Genes, 2020 - mdpi.com
Duchenne muscular dystrophy (DMD) is a fatal X-linked recessive condition caused
primarily by out-of-frame mutations in the dystrophin gene. In males, DMD presents with …

Clinical and genetic characteristics of female dystrophinopathy carriers

J Zhong, Y Xie, V Bhandari… - Molecular …, 2019 - spandidos-publications.com
The present study aimed to determine the genetic status of manifesting carriers (MCs) of
Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) and asymptomatic …

Dystrophin cardiomyopathies: clinical management, molecular pathogenesis and evolution towards precision medicine

D D'Amario, A Gowran, F Canonico… - Journal of clinical …, 2018 - mdpi.com
Duchenne's muscular dystrophy is an X-linked neuromuscular disease that manifests as
muscle atrophy and cardiomyopathy in young boys. However, a considerable percentage of …

Cardiac involvement in female carriers of duchenne or becker muscular dystrophy

T Mccaffrey, M Guglieri, AP Murphy, K Bushby… - Muscle & …, 2017 - Wiley Online Library
Introduction The significance of abnormal cardiac measures in asymptomatic females who
harbor dystrophin gene mutations is controversial. Methods Echo‐measures of ventricular …

Cardiovascular disease in Duchenne muscular dystrophy: overview and insight into novel therapeutic targets

TI Schultz, FJ Raucci Jr, FN Salloum - Basic to Translational Science, 2022 - jacc.org
Duchenne muscular dystrophy (DMD) is a devastating disease affecting approximately 1 in
every 3,500 male births worldwide. Multiple mutations in the dystrophin gene have been …

Current understanding and management of dilated cardiomyopathy in Duchenne and Becker muscular dystrophy

RW Kaspar, HD Allen, F Montanaro - Journal of the American …, 2009 - journals.lww.com
Purpose: To review the current understanding of the pathophysiology of dilated
cardiomyopathy (DCM) in patients with Duchenne and Becker muscular dystrophies …

The multifaceted view of heart problem in Duchenne muscular dystrophy

U Florczyk-Soluch, K Polak, J Dulak - Cellular and Molecular Life Sciences, 2021 - Springer
Dystrophin is a large protein serving as local scaffolding repetitively bridging cytoskeleton
and the outside of striated muscle cell. As such dystrophin is a critical brick primarily in …

Cardiac assessment in Duchenne and Becker muscular dystrophies

A Romfh, EM McNally - Current heart failure reports, 2010 - Springer
Mutations in the dystrophin gene cause Duchenne and Becker muscular dystrophies. In
addition to muscle disease, there nearly always is an associated cardiomyopathy in …

Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy

EM Hoogerwaard, PA Van Der Wouw, AAM Wilde… - Neuromuscular …, 1999 - Elsevier
A cross-sectional study in a cohort of DNA proven carriers of Duchenne (DMD) and Becker
(BMD) muscular dystrophy was undertaken with the following objectives:(1) to estimate the …