Mitochondrial Depletion Syndromes in Children and Adults

Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics

(2012) Robert D. S. Pitceathly et al.   BRAIN

Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions

(2012) D. Ronchi et al.   BRAIN

Polymerase gamma deficiency (POLG): Clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh’s encephalopathy

(2012) Emmanuel Scalais et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Maternal uniparental disomy of chromosome 2 in a patient with a DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome

(2012) Coralie Haudry et al.   MOLECULAR GENETICS AND METABOLISM

A novel homozygous mutation in SUCLA2 gene identified by exome sequencing

(2012) Costanza Lamperti et al.   MOLECULAR GENETICS AND METABOLISM

Mitochondrial DNA depletion syndrome: New descriptions and the use of citrate synthase as a helpful tool to better characterise the patients

(2012) Aleix Navarro-Sastre et al.   MOLECULAR GENETICS AND METABOLISM

Adult cases of mitochondrial DNA depletion due to TK2 defect: An expanding spectrum

(2012) A. Behin et al.   NEUROLOGY

Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene

(2012) Abdulaziz AlSaman et al.   Saudi Journal of Gastroenterology

MR Imaging Findings in the Reticular Formation in Siblings withMPV17-Related Mitochondrial Depletion Syndrome

(2011) A.N. Merkle et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy

(2011) Caterina Garone et al.   BRAIN

Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions

(2011) H. Tyynismaa et al.   HUMAN MOLECULAR GENETICS

Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis

(2011) Ganka V Douglas et al.   JOURNAL OF HUMAN GENETICS

Kearns-Sayre syndrome caused by defective R1/p53R2 assembly

(2011) R. D. S. Pitceathly et al.   JOURNAL OF MEDICAL GENETICS

Mitochondrial mimicry of multiple system atrophy of the cerebellar subtype

(2011) Arpan R. Mehta et al.   MOVEMENT DISORDERS

Neonatal lactic acidosis with methylmalonic aciduria due to novel mutations in the SUCLG1 gene

(2011) Osamu Sakamoto et al.   PEDIATRICS INTERNATIONAL

Mitochondrial hepatopathies in the newborn period

(2011) Vineta Fellman et al.   Seminars in Fetal & Neonatal Medicine

Upregulation of nuclear-encoded mitochondrial LON protease in HAART-treated HIV-positive patients with lipodystrophy: implications for the pathogenesis of the disease

(2010) Marcello Pinti et al.   AIDS

Quantitative Evaluation of the Mitochondrial DNA Depletion Syndrome

(2010) D. Dimmock et al.   CLINICAL CHEMISTRY

Polymerase gamma disease through the ages

(2010) Russell P. Saneto et al.   Developmental Disabilities Research Reviews

OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution

(2010) G. Elachouri et al.   GENOME RESEARCH

Loss of thymidine kinase 2 alters neuronal bioenergetics and leads to neurodegeneration

(2010) Stefano Bartesaghi et al.   HUMAN MOLECULAR GENETICS

Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure

(2010) Ewa Pronicka et al.   JOURNAL OF APPLIED GENETICS

The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein

(2010) C. Rouzier et al.   JOURNAL OF MEDICAL GENETICS

Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch

(2010) Henry Rivera et al.   MITOCHONDRION

New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria

(2010) Vassili Valayannopoulos et al.   MITOCHONDRION

A second MNGIE patient without typical mitochondrial skeletal muscle involvement

(2010) Elena Cardaioli et al.   NEUROLOGICAL SCIENCES

Two novel mutations in thymidine kinase-2 cause early onset fatal encephalomyopathy and severe mtDNA depletion

(2010) Nicole Lesko et al.   NEUROMUSCULAR DISORDERS

Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1)

(2009) J. Poulton et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Recessive twinkle mutations cause severe epileptic encephalopathy

(2009) T. Lonnqvist et al.   BRAIN

A novel TYMP mutation in a French Canadian patient with mitochondrial neurogastrointestinal encephalomyopathy

(2009) Robert Laforce et al.   CLINICAL NEUROLOGY AND NEUROSURGERY

A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria

(2009) Elsebet Ostergaard et al.   EUROPEAN JOURNAL OF PEDIATRICS

Intracerebral Periventricular Pseudocysts in a Fetus with Mitochondrial Depletion Syndrome: An Association or Coincidence

(2009) M. Rohrbach et al.   FETAL DIAGNOSIS AND THERAPY

In vitro supplementation with dAMP/dGMP leads to partial restoration of mtDNA levels in mitochondrial depletion syndromes

(2009) S. Bulst et al.   HUMAN MOLECULAR GENETICS

The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome

(2009) N. Brahimi et al.   MOLECULAR GENETICS AND METABOLISM

Fluctuating liver functions in siblings with MPV17 mutations and possible improvement associated with dietary and pharmaceutical treatments targeting respiratory chain complex II

(2009) Shunsaku Kaji et al.   MOLECULAR GENETICS AND METABOLISM

A novel mutation of the RRM2B gene in an infant with early fatal encephalomyopathy, central hypomyelination, and tubulopathy

(2009) Birgit Acham-Roschitz et al.   MOLECULAR GENETICS AND METABOLISM

MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: New patients and novel mutations

(2009) Ayman W. El-Hattab et al.   MOLECULAR GENETICS AND METABOLISM

Application of oligonucleotide array CGH to the simultaneous detection of a deletion in the nuclear TK2 gene and mtDNA depletion

(2009) Shulin Zhang et al.   MOLECULAR GENETICS AND METABOLISM

Late-onset MNGIE without peripheral neuropathy due to incomplete loss of thymidine phosphorylase activity

(2009) Roberto Massa et al.   NEUROMUSCULAR DISORDERS

Progressive myofiber loss with extensive fibro-fatty replacement in a child with mitochondrial DNA depletion syndrome and novel thymidine kinase 2 gene mutations

(2009) James Collins et al.   NEUROMUSCULAR DISORDERS

A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion

(2009) Gittan Kollberg et al.   NEUROMUSCULAR DISORDERS

Gastrointestinal Dysmotility in Mitochondrial Neurogastrointestinal Encephalomyopathy Is Caused by Mitochondrial DNA Depletion

(2008) Carla Giordano et al.   AMERICAN JOURNAL OF PATHOLOGY

Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome

(2008) A. Gotz et al.   BRAIN

Homozygous W748S mutation in thePOLG1gene in patients with juvenile-onset Alpers syndrome and status epilepticus

(2008) Johanna Uusimaa et al.   EPILEPSIA

A defect in the thymidine kinase 2 gene causing isolated mitochondrial myopathy without mtDNA depletion

(2008) E. Leshinsky-Silver et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion

(2008) A. H. Hakonen et al.   HUMAN MOLECULAR GENETICS

Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations

(2008) Neil Ashley et al.   HUMAN MOLECULAR GENETICS

Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients

(2008) Rossella Parini et al.   JOURNAL OF HEPATOLOGY

Lethal hepatopathy and leukodystrophy caused by a novel mutation in MPV17 gene: Description of an alternative MPV17 spliced form

(2008) Aleix Navarro-Sastre et al.   MOLECULAR GENETICS AND METABOLISM

Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene

(2008) Belén Bornstein et al.   NEUROMUSCULAR DISORDERS

Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy

(2008) Emma Blakely et al.   NEUROMUSCULAR DISORDERS

Selective muscle fiber loss and molecular compensation in mitochondrial myopathy due to TK2 deficiency

(2007) Maya R. Vilà et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES