MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases

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

(2018) Emanuele Barca et al.   HUMAN MOLECULAR GENETICS

MSeqDR mvTool: A mitochondrial DNA Web and API resource for comprehensive variant annotation, universal nomenclature collation, and reference genome conversion

(2018) Lishuang Shen et al.   HUMAN MUTATION

MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease

(2016) Lishuang Shen et al.   HUMAN MUTATION

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Infantile mitochondrial disorder associated with subclinical hypothyroidism is caused by a rare mitochondrial DNA 8691A>G mutation

(2015) Xiaosheng Hao et al.   NEUROREPORT

Expanding the clinical phenotypes of MT-ATP6 mutations

(2014) Ester López-Gallardo et al.   HUMAN MOLECULAR GENETICS

Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene

(2014) Lindsay C. Burrage et al.   MOLECULAR GENETICS AND METABOLISM

Striking Pathology in Leigh Syndrome Associated With the MTATP6 T8993G Mutation

(2014) Gabriella Sinko et al.   PEDIATRIC NEUROLOGY

A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy

(2013) An I. Jonckheere et al.   BRAIN

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

(2013) K. Aure et al.   NEUROLOGY

A novel mitochondrial mutation m.8989G>C associated with neuropathy, ataxia, retinitis pigmentosa — The NARP syndrome

(2012) Morten Duno et al.   GENE

Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis

(2012) Tomas Honzik et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Adult-onset spinocerebellar ataxia syndromes due toMTATP6mutations

(2012) Gerald Pfeffer et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

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

(2012) R. D. S. Pitceathly et al.   NEUROLOGY

Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1   subunit

(2010) J. A. Mayr et al.   HUMAN MOLECULAR GENETICS

Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation

(2010) Christophe Verny et al.   MITOCHONDRION

Identification of ataxia-associated mtDNA mutations (m.4052T>C and m.9035T>C) and evaluation of their pathogenicity in transmitochondrial cybrids

(2009) Marianna Sikorska et al.   MUSCLE & NERVE

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

(2008) Alena Čížková et al.   NATURE GENETICS