The zebrafish as a model for muscular dystrophy and congenital myopathy
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چکیده
منابع مشابه
The zebrafish as a model for muscular dystrophy and congenital myopathy.
The muscular dystrophies and congenital myopathies are inherited diseases of the skeletal muscle, which lead to a loss of muscle function and are often fatal. While many of the loci involved are already known, these conditions remain incurable, and genetic models are being developed in an effort to understand the pathological mechanisms involved. Recently several papers have shown that the zebr...
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Bethlem myopathy is an early-onset benign autosomal dominant myopathy with contractures caused by mutations in collagen type VI genes. It has been reported that onset occurs in early childhood. We investigated the natural course of Bethlem myopathy in five previously published kindreds and two novel pedigrees, with particular attention to the mode of onset in 23 children and the progression of ...
متن کاملComprehensive Muscular Dystrophy / Myopathy Panel
Different muscular dystrophies and myopathies can be inherited in an X-linked, autosomal dominant, or autosomal recessive manner. More than 50 loci have been associated to different forms of limb-girdle muscular dystrophy (LGMD) alone, making accurate diagnosis and genetic counseling a real challenge. This comprehensive panel is designed to achieve the highest clinical yield and enable the diff...
متن کاملComprehensive Muscular Dystrophy / Myopathy Panel
Different muscular dystrophies and myopathies can be inherited in an X-linked, autosomal dominant, or autosomal recessive manner. More than 50 loci have been associated to different forms of limb-girdle muscular dystrophy (LGMD) alone, making accurate diagnosis and genetic counseling a real challenge. This comprehensive panel is designed to achieve the highest clinical yield and enable the diff...
متن کاملcongenital muscular dystrophy : an overview
congenital muscular dystrophy (cmd) is an umbrella term collecting a heterogeneous groups of genetic disorders , mostly with autosomal recessive mode of inheritance , and are characterized by muscle weakness since birth or in early infancy , with a dystrophic pattern on muscle biopsy . these children are usually hypotonic and may have joint contractures . the serum creatine kinase level can be...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2003
ISSN: 0964-6906,1460-2083
DOI: 10.1093/hmg/ddg279