Deoxyguanosine kinase mutation producing juvenile-onset mitochondrial myopathy
نویسندگان
چکیده
منابع مشابه
Adult-onset mitochondrial myopathy.
Mitochondrial diseases are polymorphic entities which may affect many organs and systems. Skeletal muscle involvement is frequent in the context of systemic mitochondrial disease, but adult-onset pure mitochondrial myopathy appears to be rare. We report 3 patients with progressive skeletal mitochondrial myopathy starting in adult age. In all cases, the proximal myopathy was the only clinical fe...
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More than 100 mitochondrial (mt) DNA mutations have been described in association with different complex neurological disorders and with respiratory chain (RC) deficiency in the past decade. Aside from more frequently reported mt tRNA mutations and deletions, a growing list of pathogenic mutations affecting structural genes of mtDNA encoded respiratory chain subunits, mainly cytochrome b and cy...
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Background: Systemic-onset Juvenile Idiopathic Arthritis (SoJIA) is an autoinflammatory disease with complex genetic trait starts in children less than 16 years of age with fever and cutaneous rash. Despite, the main genetic factors that may play a role in SoJIA have not yet been identified. High level of interleukin-1beta in the blood of SoJIA patients has been reported. The production and sec...
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OBJECTIVE Distal myopathy is a heterogeneous group of muscle diseases characterized by predominant distal muscle weakness. A study was done to identify the underlying cause of autosomal recessive adolescent onset distal myopathy. METHODS Four patients from 2 unrelated Korean families were evaluated. To isolate the genetic cause, exome sequencing was performed. In vitro and in vivo assays usin...
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M ore than 100 pathogenic mitochondrial (mt) DNA mutations have been described in the past decade in association with different neuromuscular disorders. Apart from large scale mtDNA rearrangements and common point mutations in mt tRNA genes, pathogenic mutations affecting structural genes of mtDNA encoded respiratory chain subunits have been reported as well. Pathogenic tRNA mutations can affec...
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ژورنال
عنوان ژورنال: Neurology Genetics
سال: 2018
ISSN: 2376-7839
DOI: 10.1212/nxg.0000000000000269