Deep intronic variants introduce DMD pseudoexon in patient with muscular dystrophy
AK Zaum, B Stüve, A Gehrig, H Kölbel, U Schara… - Neuromuscular …, 2017 - Elsevier
Dystrophinopathies are X-linked muscle diseases caused by mutations in the large DMD
gene. The most common mutations are detected by standard diagnostic techniques …
gene. The most common mutations are detected by standard diagnostic techniques …
Genetic analysis of the dystrophin gene in children with Duchenne and Becker muscular dystrophies
J Zhong, T Xu, G Chen, H Liao, J Zhang… - Muscle & …, 2017 - Wiley Online Library
ABSTRACT Introduction Duchenne and Becker muscular dystrophies (DMD and BMD) are X‐
linked myopathies caused by mutations of the dystrophin gene. Methods Multiplex ligation …
linked myopathies caused by mutations of the dystrophin gene. Methods Multiplex ligation …
Milder course in Duchenne patients with nonsense mutations and no muscle dystrophin
M Zatz, RCM Pavanello, M Lazar, GL Yamamoto… - Neuromuscular …, 2014 - Elsevier
Duchenne muscular dystrophy (DMD), a severe and lethal condition, is caused by the
absence of muscle dystrophin. Therapeutic trials aiming at the amelioration of muscle …
absence of muscle dystrophin. Therapeutic trials aiming at the amelioration of muscle …
[HTML][HTML] An intronic LINE-1 element insertion in the dystrophin gene aborts dystrophin expression and results in Duchenne-like muscular dystrophy in the corgi breed
BF Smith, Y Yue, PR Woods, JN Kornegay… - Laboratory …, 2011 - Elsevier
Duchenne muscular dystrophy (DMD) is a dystrophin-deficient lethal muscle disease. To
date, the catastrophic muscle wasting phenotype has only been seen in dystrophin-deficient …
date, the catastrophic muscle wasting phenotype has only been seen in dystrophin-deficient …
[图书][B] Duchenne muscular dystrophy
AEH Emery, F Muntoni, R Quinlivan - 2015 - books.google.com
Duchenne Muscular Dystrophy, an inherited and progressive muscle wasting disease, is
one of the most common single gene disorders found in the developed world. In this fourth …
one of the most common single gene disorders found in the developed world. In this fourth …
Myoblots: dystrophin quantification by in‐cell western assay for a streamlined development of Duchenne muscular dystrophy (DMD) treatments
E Ruiz‐Del‐Yerro, I Garcia‐Jimenez… - Neuropathology and …, 2018 - Wiley Online Library
Aims New therapies for neuromuscular disorders are often mutation specific and require to
be studied in patient's cell cultures. In Duchenne muscular dystrophy (DMD) dystrophin …
be studied in patient's cell cultures. In Duchenne muscular dystrophy (DMD) dystrophin …
What is the level of dystrophin expression required for effective therapy of Duchenne muscular dystrophy?
DJ Wells - Journal of Muscle Research and Cell Motility, 2019 - Springer
Duchenne muscular dystrophy (DMD) is a fatal X-linked muscle wasting disease. The
disease is due to mutations in the DMD gene that encodes for a large intracellular protein …
disease is due to mutations in the DMD gene that encodes for a large intracellular protein …
Duchenne muscular dystrophy in a female with compound heterozygous contiguous exon deletions
E Takeshita, N Minami, K Minami, M Suzuki… - Neuromuscular …, 2017 - Elsevier
Females with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD)
mutations rarely exhibit clinical symptoms from childhood, although potential mechanisms …
mutations rarely exhibit clinical symptoms from childhood, although potential mechanisms …
Whole dystrophin gene analysis by next-generation sequencing: a comprehensive genetic diagnosis of Duchenne and Becker muscular dystrophy
Y Wang, Y Yang, J Liu, XC Chen, X Liu… - Molecular genetics and …, 2014 - Springer
Duchenne/Becker muscular dystrophies are the most frequent inherited neuromuscular
diseases caused by mutations of the dystrophin gene. However, approximately 30% of …
diseases caused by mutations of the dystrophin gene. However, approximately 30% of …
Characterization of a Dmd EGFP reporter mouse as a tool to investigate dystrophin expression
MV Petkova, S Morales-Gonzales, K Relizani, E Gill… - Skeletal muscle, 2016 - Springer
Background Dystrophin is a rod-shaped cytoplasmic protein that provides sarcolemmal
stability as a structural link between the cytoskeleton and the extracellular matrix via the …
stability as a structural link between the cytoskeleton and the extracellular matrix via the …