cardiomyopathy: association with a novel POLG mutation?
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منابع مشابه
Recurrent major depression, ataxia, and cardiomyopathy: association with a novel POLG mutation?
At present, more than 100 disease mutations in mitochondrial DNA polymerase γ (POLG) have been indentified that are causally related to an array of neuropsychiatric diseases affecting multiple systems. Both autosomal recessive and autosomal dominant forms can be delineated, the latter being associated with Parkinsonism and depressive or psychotic syndromes. In this report, a middle-aged female ...
متن کاملA novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes.
OBJECTIVE To describe a novel POLG missense mutation (c.3218C>T; p.P1073L) that, in association with 2 previously described mutations, caused an Alpers-like hepatocerebral syndrome in 4 children. DESIGN Genotype-phenotype correlation. SETTING Tertiary care universities. PATIENTS Four children, 2 related and 2 unrelated, with the novel p.P1073L mutation (all patients) and either the p.A467...
متن کاملRole of Polymerase Gamma Mutations in Breast Tumorigenesis PRINCIPAL INVESTIGATOR:
Decreased mitochondrial oxidative phosphorylation (OXPHOS) is one of the hallmarks of cancer. To date the identity of nuclear gene(s) responsible for decreased OXPHOS in tumors remains unknown. It is also unclear whether mutations in nuclear gene(s) responsible for decreased OXPHOS affect tumorigenesis. Polymerase γ (POLG) is the only DNA polymerase known to function in human mitochondria. Muta...
متن کاملAssociation of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population.
BACKGROUND Both dominant and recessive mutations were reported in the gene encoding the mitochondrial (mt) DNA polymerase gamma (POLG) in patients with progressive external ophthalmoplegia (PEO). Phenotypes other than PEO were recently documented in patients with mutations in the POLG gene. OBJECTIVE To screen patients with mitochondrial disease and multiple mtDNA deletions in muscle for muta...
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Pompe disease (PD), also known as “glycogen storage disease type II (OMIM # 232300)” is a rare autosomal recessive disorder characterized by progressive glycogen accumulation in cellular lysosomes. It ultimately leads to cellular damage. Infantile-onset Pompe disease (IOPD) is the most severe type of this disease and is characterized by severe hypertrophic cardiomyopathy and generalized hypoton...
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تاریخ انتشار 2017