[PDF][PDF] Three muscular dystrophies: review loss of cytoskeleton-extracellular matrix linkage
KP Campbell - Cell, 1995 - Citeseer
Muscular dystrophies are a group of diseases that primarily affect skeletal muscle and are
characterized by progressive muscle wasting and weakness. Although these diseases have …
characterized by progressive muscle wasting and weakness. Although these diseases have …
A severe muscular dystrophy patient with an internally deleted very short (110 kD) dystrophin: presence of the binding site for dystrophin-associated glycoprotein …
E Arikawa-Hirasawa, R Koga, T Tsukahara… - Neuromuscular …, 1995 - Elsevier
We report a 4-yr and 5-month-old boy with severe clinical features of an early-onset
Duchenne muscular dystrophy, who had a very short (110 kDa) dystrophin at the …
Duchenne muscular dystrophy, who had a very short (110 kDa) dystrophin at the …
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 …
The medical genetics of dystrophinopathies: molecular genetic diagnosis and its impact on clinical practice
A Ferlini, M Neri, F Gualandi - Neuromuscular Disorders, 2013 - Elsevier
A large variety of mutations in the dystrophin gene cause Duchenne and Becker muscular
dystrophies, diseases affecting predominantly the striated muscles (skeletal and cardiac) …
dystrophies, diseases affecting predominantly the striated muscles (skeletal and cardiac) …
Novel dystrophin mutations revealed by analysis of dystrophin mRNA: alternative splicing suppresses the phenotypic effect of a nonsense mutation
L Fajkusová, Z Lukáš, M Tvrdı́ková, V Kuhrová… - Neuromuscular …, 2001 - Elsevier
The complete dystrophin mRNA sequence has been analyzed in 20 Duchenne muscular
dystrophy and Becker muscular dystrophy patients. In 13 cases, deletions in mRNA were …
dystrophy and Becker muscular dystrophy patients. In 13 cases, deletions in mRNA were …
[图书][B] Duchenne muscular dystrophy
AEH Emery, F Muntoni, RCM 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 …
[HTML][HTML] Structure and function of the dystrophin-glycoprotein complex
JM Ervasti - Madame curie bioscience database [Internet], 2013 - ncbi.nlm.nih.gov
Duchenne muscular dystrophy (DMD) is the most prevalent and severe form of human
muscular dystrophy. While clinical descriptions of DMD date back to the 1850's, over 100 …
muscular dystrophy. While clinical descriptions of DMD date back to the 1850's, over 100 …
Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene
C Béroud, A Carrié, C Beldjord, N Deburgrave… - Neuromuscular …, 2004 - Elsevier
In the course of a mutation search performed by muscle dystrophin transcript analysis in 72
Duchenne and Becker Muscular Dystrophies (DMD/BMD) patients without gross gene …
Duchenne and Becker Muscular Dystrophies (DMD/BMD) patients without gross gene …
Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies
J Chelly, H Gilgenkrantz, M Lambert, G Hamard… - Cell, 1990 - cell.com
Muscle dystrophin mRNAs from Duchenne (DMD) and Becker (BMD) patients with internal
deletion of the DMD gene were quantitated and sequenced. In all cases (eight DMD and …
deletion of the DMD gene were quantitated and sequenced. In all cases (eight DMD and …
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 …