A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies
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چکیده
منابع مشابه
Ullrich Congenital Muscular Dystrophy Possibly Related With COL6A1 p.Gly302Arg Variant
Ullrich congenital muscular dystrophy (UCMD) is characterized by congenital weakness, proximal joint contractures, and hyperlaxity of distal joints. UCMD is basically due to a defect in extra cellular matrix protein, collagen type VI. A 37-year-old woman who cannot walk independently visited our outpatient clinic. She had orthopedic deformities (scoliosis, joint contractures, and distal joint h...
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Duchenne’s muscular dystrophy is a devastating, progressive, X-linked muscle-wasting disease. It is the most common form of muscular dystrophy, affecting 1 in 3500 boys. With an onset in early childhood, the disease progresses to final stages that are characterized by cardiorespiratory failure and death, which usually occurs in the teenage years or early 20s. The disease affects striated muscle...
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Progressive weakness and degeneration of skeletal muscles caused by genetic alterations fall into the category of muscular dystrophy. Muscular dystrophy occurs worldwide and affects all races. The overall incidence of muscular dystrophy varies among forms, as some forms are more common than others. Muscle loss and weakness are not necessarily caused by genetic alteration. Skeletal muscle inacti...
متن کاملNovel therapies for Duchenne muscular dystrophy.
The development of therapeutic strategies that overcome the unique problems posed by Duchenne muscular dystrophy (DMD) has lead to the development of many contemporary approaches to human disease in general. Various treatment approaches have been explored--such as pharmacological therapies and cell-based, cytokine, and genetic therapies--that are all targeted to specific features of dystrophic ...
متن کاملA Nonsense Variant in COL6A1 in Landseer Dogs with Muscular Dystrophy
A novel canine muscular dystrophy in Landseer dogs was observed. We had access to five affected dogs from two litters. The clinical signs started at a few weeks of age, and the severe progressive muscle weakness led to euthanasia between 5 and 15 months of age. The pedigrees of the affected dogs suggested a monogenic autosomal-recessive inheritance of the trait. Linkage and homozygosity mapping...
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ژورنال
عنوان ژورنال: JCI Insight
سال: 2019
ISSN: 2379-3708
DOI: 10.1172/jci.insight.124403