Transition to Next Generation Analysis of the Whole Mitochondrial Genome: A Summary of Molecular Defects

Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disorders

(2013) Hong Cui et al.   GENETICS IN MEDICINE

Comprehensive One-Step Molecular Analyses of Mitochondrial Genome by Massively Parallel Sequencing

(2012) W. Zhang et al.   CLINICAL CHEMISTRY

The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome

(2012) VICTORIA NESBITT et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

An integrated approach for classifying mitochondrial DNA variants: one clinical diagnostic laboratory’s experience

(2012) Jing Wang et al.   GENETICS IN MEDICINE

Toward a mtDNA locus-specific mutation database using the LOVD platform

(2012) Joanna L. Elson et al.   HUMAN MUTATION

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

(2012) Tobias B Haack et al.   JOURNAL OF MEDICAL GENETICS

Mitochondrial myopathy due to novel missense mutation in the cytochrome c oxidase 1 gene

(2012) Rami Massie et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Mitochondrial tRNAPhe mutation as a cause of end-stage renal disease in childhood

(2012) Kristin E. D’Aco et al.   PEDIATRIC NEPHROLOGY

Next-generation sequencing for mitochondrial diseases: A wide diagnostic spectrum

(2012) Valeria Vasta et al.   PEDIATRICS INTERNATIONAL

Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

(2012) S. E. Calvo et al.   Science Translational Medicine

Novel POLG Splice Site Mutation and Optic Atrophy

(2011) Margherita Milone et al.   ARCHIVES OF NEUROLOGY

Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C mutation

(2011) Dario Ronchi et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations

(2011) Helen Swalwell et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations

(2011) John W. Yarham et al.   HUMAN MUTATION

Mitochondrial DNA polymerase   mutations: an ever expanding molecular and clinical spectrum

(2011) S. Tang et al.   JOURNAL OF MEDICAL GENETICS

Mutation in the mitochondrial tRNAVal causes mitochondrial encephalopathy, lactic acidosis and stroke-like episodes

(2011) Catherine Glatz et al.   MITOCHONDRION

A p.R369G POLG2 mutation associated with adPEO and multiple mtDNA deletions causes decreased affinity between polymerase γ subunits

(2011) Kate Craig et al.   MITOCHONDRION

Leigh syndrome caused by a novel m.4296G>A mutation in mitochondrial tRNA isoleucine

(2011) Rachel Cox et al.   MITOCHONDRION

Characterization of mitochondrial DNA heteroplasmy using a parallel sequencing system

(2010) Sha Tang et al.   BIOTECHNIQUES

A neurological perspective on mitochondrial disease

(2010) Robert McFarland et al.   LANCET NEUROLOGY

Left ventricular noncompaction is associated with mutations in the mitochondrial genome

(2010) Sha Tang et al.   MITOCHONDRION

Current molecular diagnostic algorithm for mitochondrial disorders

(2010) Lee-Jun C. Wong et al.   MOLECULAR GENETICS AND METABOLISM

Heteroplasmic mitochondrial DNA mutations in normal and tumour cells

(2010) Yiping He et al.   NATURE

Mitochondrial DNA Variant Discovery and Evaluation in Human Cardiomyopathies through Next-Generation Sequencing

(2010) Michael V. Zaragoza et al.   PLoS One

A Heterozygous Truncating Mutation in RRM2B Causes Autosomal-Dominant Progressive External Ophthalmoplegia with Multiple mtDNA Deletions

(2009) Henna Tyynismaa et al.   AMERICAN JOURNAL OF HUMAN GENETICS

EFNS guidelines on the molecular diagnosis of mitochondrial disorders

(2009) J. Finsterer et al.   EUROPEAN JOURNAL OF NEUROLOGY

Application of dual-genome oligonucleotidearray-based comparative genomic hybridization to the molecular diagnosis of mitochondrial DNA deletion and depletion syndromes

(2009) A Craig Chinault et al.   GENETICS IN MEDICINE

Mutations in ND Subunits of Complex I Are an Important Genetic Cause of Childhood Mitochondrial Encephalopathies

(2009) Byung Chan Lim et al.   JOURNAL OF CHILD NEUROLOGY

Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes

(2009) S M Ware et al.   JOURNAL OF MEDICAL GENETICS

Mitochondrial disorder with OPA1 mutation lacking optic atrophy

(2009) Margherita Milone et al.   MITOCHONDRION

Rolandic Mitochondrial Encephalomyelopathy and MT-ND3 Mutations

(2009) Klaus G.E. Werner et al.   PEDIATRIC NEUROLOGY

Next generation sequence analysis for mitochondrial disorders

(2009) Valeria Vasta et al.   Genome Medicine

Pathogenic Mitochondrial DNA Mutations Are Common in the General Population

(2008) Hannah R. Elliott et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Utility of Oligonucleotide Array-Based Comparative Genomic Hybridization for Detection of Target Gene Deletions

(2008) L.-J. C. Wong et al.   CLINICAL CHEMISTRY

Molecular and clinical genetics of mitochondrial diseases due toPOLGmutations

(2008) Lee-Jun C. Wong et al.   HUMAN MUTATION

A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes

(2008) Lynsey M Cree et al.   NATURE GENETICS

Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations

(2008) Margherita Milone et al.   NEUROMUSCULAR DISORDERS

Human mitochondrial transfer RNAs: Role of pathogenic mutation in disease

(2007) Fernando Scaglia et al.   MUSCLE & NERVE