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Science, ISSN 0036-8075, 12/2004, Volume 306, Issue 5702, pp. 1796 - 1799
Most mutations in the dystrophin gene create a frameshift or a stop in the mRNA and are associated with severe Duchenne muscular dystrophy. Exon skipping that... 
Proteins | Legs | Messenger RNA | Reverse transcriptase polymerase chain reaction | Exons | Duchenne muscular dystrophy | Muscles | Small nuclear RNA | Reports | Muscle fibers | Genetic mutation | SKELETAL-MUSCLE | HEMOPHILIA-B | MULTIDISCIPLINARY SCIENCES | MDX MOUSE MUSCLE | MUTATION | DUCHENNE MUSCULAR-DYSTROPHY | GENE-TRANSFER | EXPRESSION | PRE-MESSENGER-RNA | DELIVERY | VECTOR | Dependovirus - genetics | Genetic Therapy | Muscular Dystrophy, Animal - genetics | Muscular Dystrophy, Animal - physiopathology | Muscle, Skeletal - metabolism | RNA, Messenger - metabolism | Muscular Dystrophy, Animal - pathology | RNA Splicing | Transfection | Muscular Dystrophy, Duchenne - physiopathology | RNA, Small Nuclear - genetics | Mice, Inbred mdx | Muscular Dystrophy, Animal - therapy | Muscular Dystrophy, Duchenne - therapy | Dystrophin - metabolism | Oligonucleotides, Antisense - pharmacology | Introns | RNA, Messenger - genetics | Muscular Dystrophy, Duchenne - pathology | Muscle, Skeletal - physiology | Muscle Fibers, Skeletal - immunology | Animals | Muscle Contraction | Dystrophin - genetics | Muscle Fibers, Skeletal - pathology | Mice | Muscle, Skeletal - pathology | Muscular Dystrophy, Duchenne - genetics | Mutation | RNA, Small Nuclear - metabolism | Genetic Vectors | Usage | Care and treatment | Genetic aspects | Gene therapy | Exon (Molecular genetics) | Ribonucleic acid--RNA | Genes | Rodents | Muscular dystrophy | Index Medicus
Journal Article
Documentation et bibliothèques, ISSN 0315-2340, 2000, Volume 46, Issue 2, p. 101
Journal Article
Journal of Neuropathology and Experimental Neurology, ISSN 0022-3069, 07/2009, Volume 68, Issue 7, pp. 762 - 773
Journal Article
PLoS ONE, ISSN 1932-6203, 02/2009, Volume 4, Issue 2, pp. e4347 - e4347
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 11/2015, Volume 10, Issue 26, p. O16
Journal Article
The American Journal of Cardiology, ISSN 0002-9149, 07/2018, Volume 122, Issue 2, pp. 353 - 355
Cardiac and respiratory function may be impaired in sarcoglycanopathies, a subgroup of muscular dystrophies due to sarcoglycan proteins (α, β, γ, and δ) genes... 
OBSTRUCTIVE SLEEP-APNEA | END-EXPIRATORY PRESSURE | CARDIAC & CARDIOVASCULAR SYSTEMS | PERFORMANCE | HEART INVOLVEMENT | POSITIVE AIRWAY PRESSURE | FAILURE | Heart | Heart failure | Physiological effects | Respiratory function | Cardiomyopathy | Sleep apnea | Thorax | Patients | Muscular dystrophy | Subgroups | Proteins | Sleep disorders | Sleep | Apnea | Cardiac function | Sarcoglycanopathy | Ventilation | Mutation | Dystrophy | Ventricle | Ejection
Journal Article
PLoS ONE, ISSN 1932-6203, 04/2016, Volume 11, Issue 4, pp. e0153095 - e0153095
Journal Article
Human Mutation, ISSN 1059-7794, 11/2013, Volume 34, Issue 11, pp. 1449 - 1457
Journal Article
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 05/2018, Volume 89, Issue 5, pp. 506 - 512
BackgroundMutations in the gene coding for protein O-mannosyl-transferase 2 (POMT2) are known to cause severe congenital muscular dystrophy, and recently,... 
SURGERY | ALPHA-DYSTROGLYCAN | FUKUTIN GENE-MUTATIONS | GENOTYPE | MRI | PSYCHIATRY | CARDIOMYOPATHY | PHENOTYPE | GLYCOSYLATION | CLINICAL NEUROLOGY | Proteins | Walking | Congenital diseases | Disease | Biopsy | Cardiomyopathy | Family medical history | Mutation | Cognitive development | Age | Muscular dystrophy | Siblings
Journal Article
Muscle & Nerve, ISSN 0148-639X, 12/2017, Volume 56, Issue 6, pp. 1096 - 1100
Journal Article
PLoS ONE, ISSN 1932-6203, 01/2018, Volume 13, Issue 1, pp. e0190518 - e0190518
Background Duchenne muscular dystrophy (DMD) is an inherited myogenic disorder due to mutations in the dystrophin gene on chromosome Xp21.1. We designed this... 
VENTRICULAR SYSTOLIC DYSFUNCTION | SURVIVAL | ARRHYTHMIAS | MORTALITY | IMPACT | THERAPY | VENTILATION | MULTIDISCIPLINARY SCIENCES | HEART-FAILURE | CARDIOMYOPATHY | CONDUCTION | Index Medicus
Journal Article