The clinical spectrum of mitochondrial genetic disorders
نویسندگان
چکیده
منابع مشابه
Clinical Genetic Aspects of ASD Spectrum Disorders.
Early presumptions opined that autism spectrum disorder (ASD) was related to the rearing of these children by emotionally-distant mothers. Advances in the 1960s and 1970s clearly demonstrated the biologic basis of autism with a high heritability. Recent advances have demonstrated that specific etiologic factors in autism spectrum disorders can be identified in 30%-40% of cases. Based on early r...
متن کاملClinical Genetic Aspects of Autism Spectrum Disorders
Early presumptions opined that autism spectrum disorder (ASD) was related to the rearing of these children by emotionally-distant mothers. Advances in the 1960s and 1970s clearly demonstrated the biologic basis of autism with a high heritability. Recent advances have demonstrated that specific etiologic factors in autism spectrum disorders can be identified in 30%–40% of cases. Based on early r...
متن کاملMitochondrial DNA defects: a widening clinical spectrum of disorders.
1. Mitochondrial DNA has a number of interesting properties including maternal transmission, the ability to replicate in post-mitotic cells, a high mutation rate and an extremely compact molecular architecture with no introns and no large non-coding sequences. 2. Point mutations, deletions and duplications of mitochondrial DNA may occur. Mitochondrial DNA defects may co-exist with wild-type seq...
متن کاملClinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy.
Mitochondrial neurogastrointestinal encephalomyopathy is a rare multisystemic autosomic recessive disorder characterized by: onset typically before the age of 30 years; ptosis; progressive external ophthalmoplegia; gastrointestinal dysmotility; cachexia; peripheral neuropathy; and leucoencephalopathy. The disease is caused by mutations in the TYMP gene encoding thymidine phosphorylasethymine ph...
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ژورنال
عنوان ژورنال: Clinical Medicine
سال: 2008
ISSN: 1470-2118,1473-4893
DOI: 10.7861/clinmedicine.8-6-601