منابع مشابه
Classic diseases revisited Carbohydrate-deficient glycoprotein syndromes
Four types of carbohydratedeficient glycoprotein syndrome have been described, and the cause of two of them has been found. The symptoms and signs of these syndromes are described, with variations that occur at different ages. The commonest is type Ia with an autosomal recessive form of inheritance, and the gene responsible has been mapped to 16p. The typical pathology is atrophy of the cerebel...
متن کاملAnimal mitochondrial DNA recombination revisited
Exchange of homologous sequences between mitochondrial DNA (mtDNA) molecules is thought to be absent in animals, primarily because of a failure to observe clear cases of recombinant haplotypes in natural populations. However, whether mtDNA recombination occurs is a different issue from whether it produces new haplotypes. A requirement for the latter is heteroplasmy – the presence of more than o...
متن کاملSyndromes associated with mitochondrial DNA depletion
Mitochondrial dysfunction accounts for a large group of inherited metabolic disorders most of which are due to a dysfunctional mitochondrial respiratory chain (MRC) and, consequently, deficient energy production. MRC function depends on the coordinated expression of both nuclear (nDNA) and mitochondrial (mtDNA) genomes. Thus, mitochondrial diseases can be caused by genetic defects in either the...
متن کاملMitochondrial depletion syndromes in children and adults.
To highlight differences between early-onset and adult mitochondrial depletion syndromes (MDS) concerning etiology and genetic background, pathogenesis, phenotype, clinical presentation and their outcome. MDSs most frequently occur in neonates, infants, or juveniles and more rarely in adolescents or adults. Mutated genes phenotypically presenting with adult-onset MDS include POLG1, TK2, TyMP, R...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Clinical Medicine
سال: 2021
ISSN: 2077-0383
DOI: 10.3390/jcm10061249