Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy
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چکیده
منابع مشابه
Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures.
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 کاملModerately progressive Ullrich congenital muscular dystrophy.
OBJECTIVES To describe genetic and clinical features of Ullrich congenital muscular dystrophy (UCMD), and to report the case of a patient diagnosed with UCMD after an exhaustive investigation, which included collagen VI immunohistochemical and genomic analyses. DESCRIPTION This study was based on clinical, immunohistochemical assessment of muscle tissue and genomic analysis of dermal fibrobla...
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...
متن کاملullrich congenital muscular dystrophy
objective ullrich congenital muscular dystrophy is a rather severe type of congenital muscular dystrophy with early onset features related to motor development. in general it is inherited in autosomal recessive principles, however in the western world mostly seen with de novo dominant mutations in the collagen vi genes. milder form of the condition is the bethlem myopathy. there may be overlap ...
متن کاملThe 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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ژورنال
عنوان ژورنال: Acta Neuropathologica Communications
سال: 2020
ISSN: 2051-5960
DOI: 10.1186/s40478-020-01017-1