Orly Elpeleg

Summary

Affiliation: The Hebrew University
Country: Israel

Publications

  1. ncbi request reprint Depletion of the other genome-mitochondrial DNA depletion syndromes in humans
    Orly Elpeleg
    Hebrew University, Faculty of Medicine, Jerusalem, Israel
    J Mol Med (Berl) 80:389-96. 2002
  2. ncbi request reprint Sustained oral lysine supplementation in ornithine delta-aminotransferase deficiency
    N Elpeleg
    Metabolic Disease Unit, Shaare Zedek Medical Center, Jerusalem, Israel
    J Inherit Metab Dis 24:423-4. 2001
  3. pmc Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion
    Orly Elpeleg
    Metabolic Disease Unit, Shaare Zedek Medical Center, Jerusalem, Israel
    Am J Hum Genet 76:1081-6. 2005
  4. ncbi request reprint Inherited mitochondrial DNA depletion
    Orly Elpeleg
    The Metabolic Disease Unit, Shaare Zedek Medical Center, Jerusalem 91031, Israel
    Pediatr Res 54:153-9. 2003
  5. ncbi request reprint N-acetylglutamate synthase deficiency and the treatment of hyperammonemic encephalopathy
    Orly Elpeleg
    The Metabolic Disease Unit, Faculty of Medicine, Shaare Zedek Medical Center, Hebrew University, Jerusalem 91031, Israel
    Ann Neurol 52:845-9. 2002
  6. ncbi request reprint Mitochondrial deoxyribonucleoside triphosphate pools in thymidine kinase 2 deficiency
    Ann Saada
    Metabolic Disease Unit, Shaare Zedek Medical Center, Jerusalem, Israel
    Biochem Biophys Res Commun 310:963-6. 2003
  7. pmc Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia
    Simon Edvardson
    Metabolic Disease Unit, Hadassah Hebrew University Medical Center, Jerusalem 91120, Israel
    Am J Hum Genet 83:643-8. 2008
  8. ncbi request reprint Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation
    Chaya Miller
    Metabolic Disease Unit, Shaare Zedek Medical Center, Jerusalem, Israel
    Ann Neurol 56:734-8. 2004
  9. ncbi request reprint Isolated truncus arteriosus associated with a mutation in the plexin-D1 gene
    Asaf Ta-Shma
    Department of Pediatric Cardiology, Hadassah, Hebrew University Medical Center, Jerusalem, Israel
    Am J Med Genet A 161:3115-20. 2013
  10. doi request reprint CD59 deficiency is associated with chronic hemolysis and childhood relapsing immune-mediated polyneuropathy
    Yoram Nevo
    Neuropediatric Unit, Hadassah Hebrew University Medical Center, Jerusalem, Israel
    Blood 121:129-35. 2013

Detail Information

Publications51

  1. ncbi request reprint Depletion of the other genome-mitochondrial DNA depletion syndromes in humans
    Orly Elpeleg
    Hebrew University, Faculty of Medicine, Jerusalem, Israel
    J Mol Med (Berl) 80:389-96. 2002
    ..We also speculate on future genes to be discovered in other phenotypes of mtDNA depletion...
  2. ncbi request reprint Sustained oral lysine supplementation in ornithine delta-aminotransferase deficiency
    N Elpeleg
    Metabolic Disease Unit, Shaare Zedek Medical Center, Jerusalem, Israel
    J Inherit Metab Dis 24:423-4. 2001
    ..Oral lysine administration to three patients with B6-nonresponsive gyrate atrophy reduced plasma ornithine concentrations by 21-31% within 1-2 days. No further reduction was noted with time...
  3. pmc Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion
    Orly Elpeleg
    Metabolic Disease Unit, Shaare Zedek Medical Center, Jerusalem, Israel
    Am J Hum Genet 76:1081-6. 2005
    ..Succinyl-CoA synthetase is invariably in a complex with mitochondrial nucleotide diphosphate kinase; hence, we propose that a defect in the last step of mitochondrial dNTP salvage is a novel cause of the mtDNA depletion syndrome...
  4. ncbi request reprint Inherited mitochondrial DNA depletion
    Orly Elpeleg
    The Metabolic Disease Unit, Shaare Zedek Medical Center, Jerusalem 91031, Israel
    Pediatr Res 54:153-9. 2003
    ..Future goals include understanding how the defective proteins perturb replication, why it affects only some tissues and spares others, and which other genes should be considered in other patients with mtDNA depletion...
  5. ncbi request reprint N-acetylglutamate synthase deficiency and the treatment of hyperammonemic encephalopathy
    Orly Elpeleg
    The Metabolic Disease Unit, Faculty of Medicine, Shaare Zedek Medical Center, Hebrew University, Jerusalem 91031, Israel
    Ann Neurol 52:845-9. 2002
    ..A therapeutic trial with carbamylglutamate is recommended whenever hyperammonemia without an organic aciduria, increased orotate excretion, or diagnostic amino acidemia/uria is detected...
  6. ncbi request reprint Mitochondrial deoxyribonucleoside triphosphate pools in thymidine kinase 2 deficiency
    Ann Saada
    Metabolic Disease Unit, Shaare Zedek Medical Center, Jerusalem, Israel
    Biochem Biophys Res Commun 310:963-6. 2003
    ..These findings underline the importance of balanced mitochondrial dNTP pools for mtDNA synthesis and may serve as the basis for future therapeutic interventions...
  7. pmc Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia
    Simon Edvardson
    Metabolic Disease Unit, Hadassah Hebrew University Medical Center, Jerusalem 91120, Israel
    Am J Hum Genet 83:643-8. 2008
    ..In patients with autosomal-recessive unclassified leukodystrophy or complex spastic paraparesis, sequence analysis of the FA2H gene is warranted...
  8. ncbi request reprint Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation
    Chaya Miller
    Metabolic Disease Unit, Shaare Zedek Medical Center, Jerusalem, Israel
    Ann Neurol 56:734-8. 2004
    ..A new group of mitochondrial respiratory chain disorders is proposed, resulting from mutations in nuclear encoded components of the mitochondrial translation apparatus...
  9. ncbi request reprint Isolated truncus arteriosus associated with a mutation in the plexin-D1 gene
    Asaf Ta-Shma
    Department of Pediatric Cardiology, Hadassah, Hebrew University Medical Center, Jerusalem, Israel
    Am J Med Genet A 161:3115-20. 2013
    ..Exome analysis is valuable for molecular investigation of single patients with congenital heart defects in whom chromosomal copy number variants have been excluded...
  10. doi request reprint CD59 deficiency is associated with chronic hemolysis and childhood relapsing immune-mediated polyneuropathy
    Yoram Nevo
    Neuropediatric Unit, Hadassah Hebrew University Medical Center, Jerusalem, Israel
    Blood 121:129-35. 2013
    ..This mutation is manifested clinically in infancy by chronic hemolysis and relapsing peripheral demyelinating disease...
  11. doi request reprint A human laterality disorder associated with recessive CCDC11 mutation
    Zeev Perles
    Department of Pediatric Cardiology, Hadassah Hebrew University Medical Center, Jerusalem, Israel
    J Med Genet 49:386-90. 2012
    ..The former refers to abnormal distribution of visceral organs, and the latter refers to a complete laterality inversion of both abdominal and thoracic viscera...
  12. pmc A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism
    Simon Edvardson
    Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel
    PLoS ONE 7:e36458. 2012
    ..The present report underscores the importance of the endocytic/lysosomal pathway in the pathogenesis of Parkinson disease and other forms of parkinsonism...
  13. doi request reprint Hereditary sensory autonomic neuropathy caused by a mutation in dystonin
    Simon Edvardson
    Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel
    Ann Neurol 71:569-72. 2012
    ..Homozygosity mapping followed by exome sequencing is a successful approach to identify mutated genes in rare monogenic disorders...
  14. doi request reprint A deleterious founder mutation in the BMPER gene causes diaphanospondylodysostosis (DSD)
    Ziva Ben-Neriah
    Monique and Jacques Roboh Department of Genetic Research, Hadassah Hebrew University Medical Center, Jerusalem, Israel
    Am J Med Genet A 155:2801-6. 2011
    ..Our findings confirm loss of BMPER function as a cause of axial versus appendicular skeletal defects, and suggest that less deleterious mutations may be involved in milder axial skeleton abnormalities...
  15. pmc Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation
    Simon Edvardson
    Hebrew University Medical Center, Jerusalem, Israel
    Am J Hum Genet 86:93-7. 2010
    ..Given the small size of the TMEM216 gene relative to other JBTS genes, its sequence analysis is warranted in all JBTS patients, especially those who suffer from associated anomalies...
  16. doi request reprint Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter
    Simon Edvardson
    Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel
    J Med Genet 50:240-5. 2013
    ..We now report the results of the biochemical and molecular studies of a patient with severe neurodevelopmental disease manifesting by agenesis of corpus callosum and optic nerve hypoplasia...
  17. doi request reprint West syndrome caused by ST3Gal-III deficiency
    Simon Edvardson
    Monique and Jacques Roboh Department of Genetic Research, The Department of Genetic and Metabolic Diseases, Hadassah, Hebrew University Medical Center, Jerusalem, Israel
    Epilepsia 54:e24-7. 2013
    ..Dysfunctional ST3GAL3 may thus result in perturbation of the posttranslational sialylation of proteins in these pathways...
  18. doi request reprint Early prenatal ventriculomegaly due to an AIFM1 mutation identified by linkage analysis and whole exome sequencing
    Itai Berger
    Monique and Jacques Roboh Department of Genetic Research, Hadassah Hebrew University Medical Center, Jerusalem, Israel
    Mol Genet Metab 104:517-20. 2011
    ..In summary, linkage analysis followed by exome sequencing of a single patient is a cost-effective approach for the identification of disease causing mutations in small non-consanguineous families...
  19. ncbi request reprint SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis
    Ronen Spiegel
    Department of Human Genetics and Metabolic Diseases, Hadassah Hebrew University Medical Center, Jerusalem, Israel
    Ann Neurol 66:419-24. 2009
    ..Determination of the SLC25A19 sequence should be considered in patients with bilateral striatal necrosis and progressive polyneuropathy...
  20. pmc Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex
    Rami Kaufmann
    Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel
    Am J Hum Genet 87:667-70. 2010
    ..We conclude that the p. L371P mutation in MED17 is a founder mutation in the Caucasus Jewish community and that homozygosity for this mutation is associated with infantile cerebral and cerebellar atrophy with poor myelination...
  21. pmc Acute infantile liver failure due to mutations in the TRMU gene
    Avraham Zeharia
    Department of Human Genetics and Metabolic Diseases, Hadassah, The Hebrew University Medical Center, Jerusalem, Israel
    Am J Hum Genet 85:401-7. 2009
    ..Given that sulfur is a TRMU substrate and its availability is limited during the neonatal period, we propose that there is a window of time whereby patients with TRMU mutations are at increased risk of developing liver failure...
  22. ncbi request reprint VPS 45-associated primary infantile myelofibrosis--successful treatment with hematopoietic stem cell transplantation
    Polina Stepensky
    Department of Pediatric Hematology Oncology and Bone Marrow Transplantation, Hadassah Hebrew University Hospital, Jerusalem, Israel
    Pediatr Transplant 17:820-5. 2013
    ..Long-term follow-up of these patients is necessary to identify extra-hematological manifestations of VPS45 deficiency. ..
  23. doi request reprint Intractable epilepsy of infancy due to homozygous mutation in the EFHC1 gene
    Itai Berger
    Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel
    Epilepsia 53:1436-40. 2012
    ..The molecular etiology of primary intractable epilepsy in infancy is largely unknown. We studied a nonconsanguineous Moroccan-Jewish family, where three of their seven children presented with intractable seizures and died at 18-36 months...
  24. pmc Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia
    Simon Edvardson
    Pediatric Neurology Unit, Hadassah Hebrew University Medical Center, Jerusalem, 91120, Israel
    Am J Hum Genet 81:857-62. 2007
    ..We speculate that missplicing mutations in mitochondrial aminoacyl-tRNA synthethase genes preferentially affect the brain because of a tissue-specific vulnerability of the splicing machinery...
  25. doi request reprint The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy
    Polina Stepensky
    Department of Pediatric Hematology Oncology, Hadassah, Hebrew University Medical Center, Jerusalem, Israel
    Blood 121:5078-87. 2013
    ..This is the first report of a Vps45-related disease in humans, manifesting by neutropenia, thrombasthenia, myelofibrosis, and progressive bone marrow failure...
  26. ncbi request reprint mtDNA depletion myopathy: elucidation of the tissue specificity in the mitochondrial thymidine kinase (TK2) deficiency
    Ann Saada
    Metabolic Disease Unit, Shaare Zedek Medical Center, Post Office Box 3235, IL 91031 Jerusalem, Israel
    Mol Genet Metab 79:1-5. 2003
    ..Our results suggest that low basal TK2 activity combined with a high requirement for mitochondrial encoded proteins in muscle predispose this tissue to the devastating effect of TK2 deficiency...
  27. pmc Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome
    Ruth Belostotsky
    Division of Pediatric Nephrology, Shaare Zedek Medical Center, Jerusalem, Israel
    Am J Hum Genet 88:193-200. 2011
    ....
  28. doi request reprint Conotruncal malformations and absent thymus due to a deleterious NKX2-6 mutation
    Asaf Ta-Shma
    Department of Pediatric Cardiology, Hadassah, Hebrew University Medical Center, Jerusalem, Israel
    J Med Genet 51:268-70. 2014
    ..In this study we investigated the cause of multiple conotruncal malformations accompanied by athymia in a consanguineous family...
  29. doi request reprint Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis
    Simon Edvardson
    Monique and Jacques Roboh, Department of Genetic Research, Hadassah Hebrew University Medical Center, Jerusalem, Israel
    J Med Genet 50:733-9. 2013
    ..The objective of this study was to find the gene mutated in eight patients from a large kindred, who suffered from autism spectrum disorder, arthrogryposis and epilepsy...
  30. doi request reprint An SNX10 mutation causes malignant osteopetrosis of infancy
    Memet Aker
    Monique and Jacques Roboh Department of GeneticResearch, Hadassah, Hebrew University Medical Center, Jerusalem, Israel
    J Med Genet 49:221-6. 2012
    ..In ∼70% of the patients there is a molecularly defined failure to maintain an acid pH at the osteoclast-bone interface (the ruffled border) which is necessary for the bone resorptive activity...
  31. ncbi request reprint Evaluation of enzymatic assays and compounds affecting ATP production in mitochondrial respiratory chain complex I deficiency
    Ann Saada
    Metabolic Disease Unit, Shaare Zedek Medical Center, POB 3235, Jerusalem 91031, Israel
    Anal Biochem 335:66-72. 2004
    ..The NADH-ferricyanide reductase assay play a helpful role in directing mutation analysis and identifying patients which are more likely to have their cells amenable for ATP production assessment...
  32. pmc Exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 gene
    Eyal Shteyer
    The Metabolic Disease Unit, Hadassah Hebrew University Medical Center, Jerusalem, Israel
    Am J Hum Genet 84:412-7. 2009
    ..Mutation analysis of COX4I2 is warranted in patients with malabsorption due to exocrine pancreatic insufficiency and in patients with dyserythropoeitic anemia...
  33. pmc Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood
    Avraham Zeharia
    The Metabolic Disease Unit, Hadassah, Hebrew University Medical Center, Jerusalem 91120, Israel
    Am J Hum Genet 83:489-94. 2008
    ..Mutations in the LPIN1 gene cause recurrent rhabdomyolysis in childhood, and a carrier state may predispose for statin-induced myopathy...
  34. doi request reprint Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7
    Ann Saada
    Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, POB 1200, 91120 Jerusalem, Israel
    J Inherit Metab Dis 35:125-31. 2012
    ..Given the significant 1:290 carrier rate for the p.G250V mutation among Ashkenazi Jews, this mutation should be screened in all Ashkenazi patients with Leigh's syndrome prior to muscle biopsy...
  35. doi request reprint Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy
    Simon Edvardson
    The Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel
    J Med Genet 50:118-23. 2013
    ..Among these, the ion channelopathies play a prominent role. In this study, we investigated the genetic cause of infantile epilepsy in three affected siblings...
  36. doi request reprint TAT-mediated delivery of LAD restores pyruvate dehydrogenase complex activity in the mitochondria of patients with LAD deficiency
    Matan Rapoport
    Department of Cellular Biochemistry and Human Genetics, Faculty of Medicine, Hebrew University, Jerusalem, Israel
    Mol Ther 16:691-7. 2008
    ..We believe that this approach involving TAT-mediated enzyme replacement therapy (ERT) can be applied to the treatment of LAD deficiency as well as to other mitochondrial and metabolic disorders...
  37. ncbi request reprint Biochemical assays for mitochondrial activity: assays of TCA cycle enzymes and PDHc
    Ann Saada Reisch
    The Metabolic Disease Unit, Hadassah Hebrew University Medical Centre, Jerusalem 91120, Israel
    Methods Cell Biol 80:199-222. 2007
  38. ncbi request reprint The H syndrome: a genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin with systemic manifestations
    Vered Molho-Pessach
    Department of Dermatology, Hadassah Hebrew University Medical Center, Jerusalem, Israel
    J Am Acad Dermatol 59:79-85. 2008
    ....
  39. ncbi request reprint Infantile citrullinemia caused by citrin deficiency with increased dibasic amino acids
    Efrat Ben-Shalom
    The Metabolic Disease Unit, Faculty of Medicine, Shaare Zedek Medical Center, Hebrew University, Jerusalem, Israel
    Mol Genet Metab 77:202-8. 2002
    ..No mutation was detected in the CAT2A specific exon of the SLC7A2 gene which encodes for the liver transporter of cationic amino acids. This is the first report of infantile citrin deficiency in non-Asian patients...
  40. doi request reprint West syndrome, microcephaly, grey matter heterotopia and hypoplasia of corpus callosum due to a novel ARFGEF2 mutation
    Ehud Banne
    Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel
    J Med Genet 50:772-5. 2013
    ..Here, we describe a novel ARFGEF2 mutation in five related patients presenting with WS, microcephaly, periventricular heterotopia and thin corpus callosum. ..
  41. doi request reprint Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects
    Polina Stepensky
    Pediatric Hematology Oncology and Bone Marrow Transplantation, Hadassah Hebrew University Medical Center, Jerusalem, Israel
    J Allergy Clin Immunol 131:477-85.e1. 2013
    ..Here we report a patient of consanguineous descent presenting at 13 months of age with hypogammaglobulinemia, Pneumocystis jirovecii pneumonia, and a suggestive family history...
  42. pmc The H syndrome is caused by mutations in the nucleoside transporter hENT3
    Vered Molho-Pessach
    Department of Dermatology, Hadassah, Hebrew University Medical Center, Jerusalem 91120, Israel
    Am J Hum Genet 83:529-34. 2008
    ..The identification of mutations in the SLC29A3 gene in patients with a mild clinical phenotype suggests that this is a largely underdiagnosed condition and strongly suggests that even oligosymptomatic individuals might have the disorder...
  43. ncbi request reprint Transmission of the mitochondrial t8993c mutation in a new family
    Haggit Hurvitz
    Am J Med Genet 111:446-7. 2002
  44. ncbi request reprint Clinical characteristics and muscle pathology in myopathic mitochondrial DNA depletion
    Yoram Nevo
    Institute for Child Development and Pediatric Neurology, Tel Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Israel
    J Child Neurol 17:499-504. 2002
    ..The severity of pathologic findings on muscle biopsy is variable and may correlate with specific mutations and thymidine kinase 2 protein residual activity...
  45. pmc Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs
    Jan A M Smeitink
    Nijmegen Centre for Mitochondrial Disorders, Department of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Am J Hum Genet 79:869-77. 2006
    ..The fact that the same mutation is associated with distinct clinical phenotypes suggests the presence of genetic modifiers of the mitochondrial translation apparatus...
  46. pmc Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer
    Karsten Bork Nielsen
    Research Unit for Molecular Medicine, Aarhus University Hospital and Faculty of Health Science, Skejby Sygehus, Denmark
    Am J Hum Genet 80:416-32. 2007
    ....
  47. pmc FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency
    Daniele Ghezzi
    Division of Molecular Neurogenetics, Foundation IRCCS Neurological Institute C Besta, 20126 Milan, Italy
    Am J Hum Genet 83:415-23. 2008
    ..The corresponding protein is localized in the mitochondrial inner compartment. Preliminary data indicate that FASTKD2 plays a role in mitochondrial apoptosis...
  48. pmc Cardiac-targeted transgenic mutant mitochondrial enzymes: mtDNA defects, antiretroviral toxicity and cardiomyopathy
    James J Kohler
    Department of Pathology, Emory University School of Medicine, 7126 Woodruff Memorial Building, 101 Woodruff Circle, Atlanta, GA, 30322, USA
    Cardiovasc Toxicol 8:57-69. 2008
    ..Mutations in genes for mtDNA biogenesis increase risk for defective mtDNA replication, leading to LV hypertrophy...
  49. doi request reprint Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation
    Itai Berger
    Pediatric Neurology Unit, Hadassah Hebrew University Medical Center, Jerusalem
    Ann Neurol 63:405-8. 2008
    ..Mutation analysis of the NDUFA11 is warranted in isolated complex I deficiency presenting with infantile lactic acidemia or encephalocardiomyopathy...
  50. pmc C6ORF66 is an assembly factor of mitochondrial complex I
    Ann Saada
    Metabolic Disease Unit and, Hadassah Hebrew University Medical Center, Jerusalem 91120, Israel
    Am J Hum Genet 82:32-8. 2008
    ..These data suggest that C6ORF66 is an assembly factor of complex I. Interestingly, the C6ORF66 gene product was previously shown to promote breast cancer cell invasiveness...
  51. ncbi request reprint Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin
    Ingrid Tein
    Division of Neurology, Department of Pediatrics, Laboratory Medicine and Pathobiology, Hospital for Sick Children, University of Toronto, Toronto, Canada M5G 1X8
    Mol Genet Metab 93:179-89. 2008
    ..This should be screened for in individuals with multicore myopathy, particularly among the Ashkenazim...