Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase- A
نویسندگان
چکیده
منابع مشابه
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gA
Correspondence to: Massimo Zeviani, MD, PhD, Unit of Molecular Neurogenetics, National Neurological Institute ‘Carlo Besta’, via Temolo 4, 20126 Milan, Italy E-mail: [email protected] Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Children’s Mitochondrial Disorders, National Institute of Neurology, Milano, Unit of Child Neurology, ‘Meyer’ Children’...
متن کاملInfantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.
We studied nine infant patients with a combination of progressive neurological and hepatic failure. Eight children, including two sibling pairs and four singletons, were affected by Alpers' hepatopathic poliodystrophy. A ninth baby patient suffered of a severe floppy infant syndrome associated with liver failure. Analysis of POLG1, the gene encoding the catalytic subunit of mitochondrial DNA po...
متن کاملMPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndrome
MPV17-related hepatocerebral mitochondrial DNA depletion syndrome (MDS) is a very rare condition, and only a few cases have been reported in East Asian countries. Here, we describe four Korean children affected by hepatocerebral MDS. The DGUOK, POLG1, and MPV17 genes were analyzed, and all patients had MPV17 mutations.
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Objective(s): As mitochondrial oxidative stress is probably entailed in ATP production, a candidate modifier factor for the long QT syndrome (LQTS) could be mitochondrial DNA (mtDNA). It has been notified that ion channels' activities in cardiomyocytes are sensitive to the ATP level. Materials and Methods: The sample of the research was an Iranian family with LQTS for mutations by PCR-SSCP and...
متن کاملHepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations.
BACKGROUND Autosomal recessive mutations in MPV17 (OMIM *137960) have been identified in the hepatocerebral form of mitochondrial DNA depletion syndrome (MDS). OBJECTIVE To describe the clinical, morphologic, and genetic findings in 3 children with MPV17-related MDS from 2 unrelated families. DESIGN Case report. SETTING Academic research. MAIN OUTCOME MEASURES We identified 3 novel path...
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ژورنال
عنوان ژورنال: Brain
سال: 2005
ISSN: 0006-8950,1460-2156
DOI: 10.1093/brain/awh410