AM is the lead author of the Cochrane review of corticosteroids in Duchenne muscular dystrophy. Diagnosis and management of Duchenne muscular dystrophy, part 3: primary care, emergency management, psychosocial care, and transitions of care across the lifespan external link opens in a new window. Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management external link opens in a new window. For any urgent enquiries please contact our customer services team who are ready to help with any problems.
|Published (Last):||9 October 2009|
|PDF File Size:||1.52 Mb|
|ePub File Size:||11.81 Mb|
|Price:||Free* [*Free Regsitration Required]|
Distrofia muscular ligada a X. Distrofia muscular de Duchenne. Distrofia muscular de Becker. Leonardo Arismendy Rodriguez jlarismendy fucsalud. Gloria Restrepo B. Enviado: DOI: Function and genetics of dystrophin and dystrophin-related proteins in muscle.
Physiological reviews. Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family with X-linked dilated cardiomyopathy. American journal of human genetics. Dystrophin and mutations: one gene, several proteins, multiple phenotypes. The Lancet Neurology. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management.
Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy. The New England journal of medicine. Essex C, Roper H. Lesson of the week: late diagnosis of Duchenne's muscular dystrophy presenting as global developmental delay. The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy.
Correlation of phenotype with genetic and protein abnormalities. Journal of neurology. Microarray-based mutation detection in the dystrophin gene. Human mutation. Strategy for comprehensive molecular testing for Duchenne and Becker muscular dystrophies. Genetic testing. Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification MLPA.
Human genetics. MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls. Automated sequence screening of the entire dystrophin cDNA in Duchenne dystrophy: point mutation detection.
American journal of medical genetics Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. Heterogeneity of dystrophin expression in patients with Duchenne and Becker muscular dystrophy. Acta neuropathologica. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus.
Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule. J Clin Neurol. BMC medical genetics. DMD mutation spectrum analysis in Chinese patients with dystrophinopathy.
Journal of human genetics. Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. PloS one. Mechanisms of tandem duplication in the Duchenne muscular dystrophy gene include both homologous and nonhomologous intrachromosomal recombination. The EMBO journal. Duplications in the DMD gene. Transaminitis in Duchenne's muscular dystrophy. Annals of the Academy of Medicine, Singapore.
Antisense oligonucleotides: the next frontier for treatment of neurological disorders. Nature reviews Neurology. Genome engineering: a new approach to gene therapy for neuromuscular disorders. Molecular therapy Nucleic acids. Mah JK. Methods Mol Biol. Ataluren in patients with nonsense mutation Duchenne muscular dystrophy ACT DMD : a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial.
Prednisolone therapy in Duchenne muscular dystrophy prolongs ambulation and prevents scoliosis. European journal of neurology. Interventions to prevent and treat corticosteroid-induced osteoporosis and prevent osteoporotic fractures in Duchenne muscular dystrophy. The Cochrane database of systematic reviews. Acerca de la Revista. Palabras clave. Perfil de Google Scholar.
Indexada en. Coordinador Editorial Leonardo Arismendy Rodriguez jlarismendy fucsalud. Asistente Editorial Gloria Restrepo B. Sistema OJS 3 - Metabiblioteca.
Duchenne and Becker muscular dystrophy: a molecular and immunohistochemical approach. In Deletions were found in The cases without deletions, which included the only woman in the study with DMD, had dystrophin deficiency. The symptomatic female carriers had no deletions but had abnormal dystrophin distribution in the sarcolemma discontinuous immunostains. The following diagnoses were made for the remaining cases without deletions with the aid of a muscle biopsy: spinal muscular atrophy, congenital myopathy; sarcoglycan deficiency and unclassified limb-girdle muscular dystrophy.
Esse parece ser o principal fator da miopatia ocorrida na DMB, resultando em fraqueza muscular progressiva 2. No retorno, o paciente referiu dificuldade progressiva para subir escadas e levantar-se. The heart in human dystrophinopathies. Campbell KP. Three muscular dystrophies: loss of cytoskeleton-extracellular matrix linkage. Evolution of cardiac abnormalities in Becker muscular dystrophy over a year period. J Neurol.
[Muscular Dystrophies in Literature, Cinema and Television]
The heart muscle, however, can be affected similarly to the way it can be in DMD. BMD's onset varies widely from 5 to 60 years of age, 1 and the course is slower and less predictable than that of DMD. Generalized weakness first affects muscles of the hips, pelvic area, thighs, and shoulders. Calves are often enlarged.