4.7 Review

Molecular Genetics Overview of Primary Mitochondrial Myopathies

Related references

Note: Only part of the references are listed.
Letter Clinical Neurology

Isolated mitochondrial myopathy due to m.3243A > G mutation in MT-TL1 gene

Rohan R. Mahale et al.

ACTA NEUROLOGICA BELGICA (2022)

Article Clinical Neurology

Progressive external ophthalmoplegia associated with novelMT-TNmutations

Kittichate Visuttijai et al.

Summary: Two patients with progressive external ophthalmoplegia (PEO) and mitochondrial myopathy were found to have mutations in the MT-TN gene, showing that MT-TN may be a hotspot for mutations causing sporadic PEO.

ACTA NEUROLOGICA SCANDINAVICA (2021)

Review Biochemistry & Molecular Biology

Cytochrome c oxidase deficiency

Michele Brischigliaro et al.

Summary: COX deficiency is characterized by genetic and phenotypic heterogeneity, affecting the whole organism or specific tissues with different disease onsets. Over 30 genes have been linked to COX deficiency, and research on the enzyme's functional features and phenotypical consequences continues to expand through experimental models.

BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS (2021)

Editorial Material Medicine, General & Internal

Coenzyme Q10 in Mitochondrial and Lysosomal Disorders

Iain P. Hargreaves

JOURNAL OF CLINICAL MEDICINE (2021)

Review Clinical Neurology

Mitochondrial disease in adults: recent advances and future promise

Yi Shiau Ng et al.

Summary: In the past five years, significant progress has been made in understanding, diagnosing, and treating mitochondrial diseases. National cohorts and international collaborations have expanded knowledge of the clinical phenotypes and natural history, high-throughput sequencing has altered diagnostic approaches, and efforts are ongoing to find better treatments including drug repurposing and gene therapies. Reproductive technologies also offer opportunities to prevent DNA-related mitochondrial disease transmission.

LANCET NEUROLOGY (2021)

Article Genetics & Heredity

The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency

Nandaki Keshavan et al.

GENETICS IN MEDICINE (2020)

Review Genetics & Heredity

Broadening the phenotypic spectrum of Pearson syndrome: Five new cases and a review of the literature

K. Taylor Wild et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2020)

Review Medicine, General & Internal

Mitochondrial disease in children

S. Rahman

JOURNAL OF INTERNAL MEDICINE (2020)

Article Genetics & Heredity

Mitochondrial diseases in North America: An analysis of the NAMDC Registry

Emanuele Barca et al.

NEUROLOGY-GENETICS (2020)

Review Biochemistry & Molecular Biology

Mitochondrial energy generation disorders: genes, mechanisms, and clues to pathology

Ann E. Frazier et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2019)

Article Clinical Neurology

COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency

Michio Inoue et al.

ANNALS OF NEUROLOGY (2019)

Article Clinical Neurology

A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy

Debby M. E. I. Hellebrekers et al.

NEUROMUSCULAR DISORDERS (2019)

Review Biochemistry & Molecular Biology

Human diseases associated with defects in assembly of OXPHOS complexes

Daniele Ghezzi et al.

MITOCHONDRIAL DISEASES (2018)

Review Biochemistry & Molecular Biology

Mitochondrial dynamics: overview of molecular mechanisms

Lisa Tilokani et al.

MITOCHONDRIAL DISEASES (2018)

Review Biochemistry & Molecular Biology

Mitochondrial DNA transcription and translation: clinical syndromes

Veronika Boczonadi et al.

MITOCHONDRIAL DISEASES (2018)

Article Biotechnology & Applied Microbiology

Long-Term Sustained Effect of Liver-Targeted Adeno-Associated Virus Gene Therapy for Mitochondrial Neurogastrointestinal Encephalomyopathy

Javier Torres-Torronteras et al.

HUMAN GENE THERAPY (2018)

Article Biochemistry & Molecular Biology

USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis

Emanuele Barca et al.

HUMAN MOLECULAR GENETICS (2018)

Review Biotechnology & Applied Microbiology

Nuclear genes involved in mitochondrial diseases caused by instability of mitochondrial DNA

Joanna Rusecka et al.

JOURNAL OF APPLIED GENETICS (2018)

Article Genetics & Heredity

Retrospective natural history of thymidine kinase 2 deficiency

Caterina Garone et al.

JOURNAL OF MEDICAL GENETICS (2018)

Review Clinical Neurology

MERRF Classification: Implications for Diagnosis and Clinical Trials

Josef Finsterer et al.

PEDIATRIC NEUROLOGY (2018)

Review Cell Biology

Mammalian Mitochondrial Complex I Structure and Disease-Causing Mutations

Karol Fiedorczuk et al.

TRENDS IN CELL BIOLOGY (2018)

Article Oncology

The genetics and pathology of mitochondrial disease

Charlotte L. Alston et al.

JOURNAL OF PATHOLOGY (2017)

Article Clinical Neurology

POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonism

Lionel Van Maldergem et al.

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY (2017)

Article Biochemistry & Molecular Biology

The little big genome: the organization of mitochondrial DNA

Iraselia Garcia et al.

FRONTIERS IN BIOSCIENCE-LANDMARK (2017)

Article Endocrinology & Metabolism

MtDNA-maintenance defects: syndromes and genes

Carlo Viscomi et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2017)

Article Clinical Neurology

Deoxycytidine and Deoxythymidine Treatment for Thymidine Kinase 2 Deficiency

Carlos Lopez-Gomez et al.

ANNALS OF NEUROLOGY (2017)

Review Clinical Neurology

Leigh syndrome: One disorder, more than 75 monogenic causes

Nicole J. Lake et al.

ANNALS OF NEUROLOGY (2016)

Article Endocrinology & Metabolism

Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients

Rosalba Carrozzo et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2016)

Article Genetics & Heredity

Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency

Laura Sanchez-Caballero et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2016)

Article Genetics & Heredity

Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype

Charlotte L. Alston et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2016)

Article Neurosciences

Personalized medicine approach confirms a milder case of ABAT deficiency

A. Besse et al.

MOLECULAR BRAIN (2016)

Article Genetics & Heredity

RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy

Aurelio Reyes et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2015)

Review Medicine, Research & Experimental

Mitochondrial disease in adults: what's old and what's new?

Patrick F. Chinnery

EMBO MOLECULAR MEDICINE (2015)

Article Biochemistry & Molecular Biology

Pathogenic mitochondrial mt-tRNAAla variants are uniquely associated with isolated myopathy

Diana Lehmann et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2015)

Article Clinical Neurology

Redefining phenotypes associated with mitochondrial DNA single deletion

Michelangelo Mancuso et al.

JOURNAL OF NEUROLOGY (2015)

Review Multidisciplinary Sciences

Mutations causing mitochondrial disease: What is new and what challenges remain?

Robert N. Lightowlers et al.

SCIENCE (2015)

Review Genetics & Heredity

Nuclear gene mutations as the cause of mitochondrial complex III deficiency

Erika Fernandez-Vizarra et al.

FRONTIERS IN GENETICS (2015)

Article Biochemistry & Molecular Biology

SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors

G. Herma Renkema et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2015)

Article Multidisciplinary Sciences

Spastic Paraplegia Type 7 Is Associated with Multiple Mitochondrial DNA Deletions

Iselin Marie Wedding et al.

PLOS ONE (2014)

Review Physiology

Nuclear Genetic Defects of Mitochondrial ATP Synthase

K. Hejzlarova et al.

PHYSIOLOGICAL RESEARCH (2014)

Article Genetics & Heredity

Complex II deficiencyA case report and review of the literature

Shailly Jain-Ghai et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2013)

Review Biochemistry & Molecular Biology

Structural analysis of cytochrome bc1 complexes: Implications to the mechanism of function

Di Xia et al.

BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS (2013)

Review Biochemistry & Molecular Biology

Maternal inheritance of mitochondrial DNA by diverse mechanisms to eliminate paternal mitochondrial DNA

Miyuki Sato et al.

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH (2013)

Article Clinical Neurology

Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations

Karine Aure et al.

NEUROLOGY (2013)

Article Endocrinology & Metabolism

Cellular and molecular mechanisms of mitochondrial function

Laura D. Osellame et al.

BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM (2012)

Article Biochemistry & Molecular Biology

MELAS: A nationwide prospective cohort study of 96 patients in Japan

Shuichi Yatsuga et al.

BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS (2012)

Review Clinical Neurology

Mitochondrial disease and epilepsy

Shamima Rahman

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2012)

Review Genetics & Heredity

Complex I deficiency: clinical features, biochemistry and molecular genetics

Elisa Fassone et al.

JOURNAL OF MEDICAL GENETICS (2012)

Article Genetics & Heredity

Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency

Charlotte L. Alston et al.

JOURNAL OF MEDICAL GENETICS (2012)

Article Endocrinology & Metabolism

Recessive deoxyguanosine kinase deficiency causes juvenile onset mitochondrial myopathy

Adam H. Buchaklian et al.

MOLECULAR GENETICS AND METABOLISM (2012)

Review Endocrinology & Metabolism

Mitochondrial complex I deficiency of nuclear origin I. Structural genes

Helene Pagniez-Mammeri et al.

MOLECULAR GENETICS AND METABOLISM (2012)

Article Endocrinology & Metabolism

Whole mitochondrial genome analysis of a family with NARP/MILS caused by m.8993T > C mutation in the MT-ATP6 gene

Bulent Kara et al.

MOLECULAR GENETICS AND METABOLISM (2012)

Article Clinical Neurology

Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease

Robert D. S. Pitceathly et al.

NEUROLOGY (2012)

Article Genetics & Heredity

Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency

Andreas Ohlenbusch et al.

ORPHANET JOURNAL OF RARE DISEASES (2012)

Review Genetics & Heredity

Dominant optic atrophy

Guy Lenaers et al.

ORPHANET JOURNAL OF RARE DISEASES (2012)

Article Biochemistry & Molecular Biology

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations

Helen Swalwell et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2011)

Article Genetics & Heredity

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

Sha Tang et al.

JOURNAL OF MEDICAL GENETICS (2011)

Article Clinical Neurology

Heterogeneous patterns of tissue injury in NARP syndrome

Jeffrey M. Gelfand et al.

JOURNAL OF NEUROLOGY (2011)

Editorial Material Clinical Neurology

RRM2B MUTATIONS ARE FREQUENT IN FAMILIAL PEO WITH MULTIPLE mtDNA DELETIONS

C. Fratter et al.

NEUROLOGY (2011)

Article Clinical Neurology

Reversible Infantile Respiratory Chain Deficiency: A Clinical and Molecular Study

Masakazu Mimaki et al.

ANNALS OF NEUROLOGY (2010)

Review Genetics & Heredity

The Mitochondrial Proteome and Human Disease

Sarah E. Calvo et al.

ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, VOL 11 (2010)

Article Biochemistry & Molecular Biology

Mitochondrial DNA background modifies the bioenergetics of NARP/MILS ATP6 mutant cells

M. D'Aurelio et al.

HUMAN MOLECULAR GENETICS (2010)

Article Clinical Neurology

Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2

Maggie C. Walter et al.

JOURNAL OF NEUROLOGY (2010)

Article Genetics & Heredity

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

Tobias B. Haack et al.

NATURE GENETICS (2010)

Article Biochemistry & Molecular Biology

Human CoQ(10) deficiencies

C. M. Quinzii et al.

BIOFACTORS (2008)

Article Clinical Neurology

OPA1 mutations induce mitochondrial DNA instability and optic atrophy plus phenotypes

Patrizia Amati-Bonneau et al.

BRAIN (2008)

Article Clinical Neurology

Chronic progressive external ophthalmoplegia:: A new heteroplasmic tRNA Leu(CUN) mutation of mitochondrial DNA

E. Cardaioli et al.

JOURNAL OF THE NEUROLOGICAL SCIENCES (2008)

Article Clinical Neurology

A novel mitochondrial ND5 (MTND5) gene mutation giving. isolated exercise intolerance

Esther Downham et al.

NEUROMUSCULAR DISORDERS (2008)

Article Clinical Neurology

Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene

Belen Bornstein et al.

NEUROMUSCULAR DISORDERS (2008)

Article Clinical Neurology

Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle

Robert H. Baloh et al.

ARCHIVES OF NEUROLOGY (2007)

Article Biochemistry & Molecular Biology

Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy

Erika Fernandez-Vizarra et al.

HUMAN MOLECULAR GENETICS (2007)

Article Clinical Neurology

X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy

Daniel Fernandez-Moreira et al.

ANNALS OF NEUROLOGY (2007)

Article Clinical Neurology

Coenzyme Q10 deficiency and isolated myopathy

R Horvath et al.

NEUROLOGY (2006)

Article Clinical Neurology

Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency

SR Lalani et al.

ARCHIVES OF NEUROLOGY (2005)

Article Clinical Neurology

Mitochondrial myopathy and rhabdomyolysis associated with a novel nonsense mutation in the gene encoding cytochrome c oxidase subunit I

G Kollberg et al.

JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2005)

Article Medicine, General & Internal

Risk of developing a mitochondrial DNA deletion disorder

PF Chinnery et al.

LANCET (2004)

Article Clinical Neurology

A novel mitochondrial tRNAPhe mutation causes MERRF syndrome

M Mancuso et al.

NEUROLOGY (2004)

Review Biochemistry & Molecular Biology

Mitochondrial threshold effects

R Rossignol et al.

BIOCHEMICAL JOURNAL (2003)

Article Medicine, General & Internal

Paternal inheritance of mitochondrial DNA

M Schwartz et al.

NEW ENGLAND JOURNAL OF MEDICINE (2002)

Article Clinical Neurology

Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease

L Salviati et al.

ARCHIVES OF NEUROLOGY (2002)

Article Clinical Neurology

Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutation

M Schuelke et al.

ANNALS OF NEUROLOGY (2002)

Article Biochemistry & Molecular Biology

Functional characterization of novel mutations in the human cytochrome b gene

F Legros et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2001)

Article Genetics & Heredity

Cytochrome c oxidase deficiency

EA Shoubridge

AMERICAN JOURNAL OF MEDICAL GENETICS (2001)

Review Clinical Neurology

MNGIE: from nuclear DNA to mitochondrial DNA

I Nishino et al.

NEUROMUSCULAR DISORDERS (2001)

Article Multidisciplinary Sciences

Role of adenine nucleotide translocator 1 in mtDNA maintenance

J Kaukonen et al.

SCIENCE (2000)

Article Genetics & Heredity

Intragenic inversion of mtDNA: A new type of pathogenic mutation in a patient with mitochondrial myopathy

O Musumeci et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2000)