The authors describe a 47-year-old man who presented with proximal muscle weakness, myalgia, elevated creatine kinase, and features of a pure myopathic syndrome in whom they have identified a novel mutation in the mit...The authors describe a 47-year-old man who presented with proximal muscle weakness, myalgia, elevated creatine kinase, and features of a pure myopathic syndrome in whom they have identified a novel mutation in the mitochondrial tRNAAla gene. This 5591G>A transition is heteroplasmic, segregates with cytochrome c oxidase deficiency in single muscle fibers, and fulfills recognized criteria for pathogenicity. This case exemplifies the wide-ranging clinical spectrum of mitochondrial disease presentations.展开更多
During the last decade, hundreds of studies have been pub- lished examining whether significant associations exist be- tween mitochondrial DNA （mtDNA） variants and/or haplogroups （clades） and particular diseases ...During the last decade, hundreds of studies have been pub- lished examining whether significant associations exist be- tween mitochondrial DNA （mtDNA） variants and/or haplogroups （clades） and particular diseases （generally com- mon/complex diseases） （Fig. 1）. However, several authors have gathered evidence indicating a high incidence of false positive findings in mtDNA case-control association studies. Raule et al. （2007） and Herrnstadt and Howell （2004） showed various problems affecting mtDNA case-control association studies. Salas et al.展开更多
Pathogenic variants in methyl-Cp G protein 2(MECP2;OMIM300005)result in an X-linked,severe,and progressive epigenetic disorder,Rett syndrome(RTT,OMIM:312750),that predominantly affects females(Rett,1966).Using Neul’s...Pathogenic variants in methyl-Cp G protein 2(MECP2;OMIM300005)result in an X-linked,severe,and progressive epigenetic disorder,Rett syndrome(RTT,OMIM:312750),that predominantly affects females(Rett,1966).Using Neul’s revised diagnostic criteria,affected individuals can be clinically classified as classic or atypical RTT(Neul et al.,2010).展开更多
文摘The authors describe a 47-year-old man who presented with proximal muscle weakness, myalgia, elevated creatine kinase, and features of a pure myopathic syndrome in whom they have identified a novel mutation in the mitochondrial tRNAAla gene. This 5591G>A transition is heteroplasmic, segregates with cytochrome c oxidase deficiency in single muscle fibers, and fulfills recognized criteria for pathogenicity. This case exemplifies the wide-ranging clinical spectrum of mitochondrial disease presentations.
基金the "Ministerio de Ciencia e Innovacio'n"(No.SAF2011-26983)the Plan Galego IDT(No.EM 2012/045)the grant from the Sistema Universitario Gallego-Modalidad REDES(No.2012-PG226,to A.Salas) from the Xunta de Galicia
文摘During the last decade, hundreds of studies have been pub- lished examining whether significant associations exist be- tween mitochondrial DNA （mtDNA） variants and/or haplogroups （clades） and particular diseases （generally com- mon/complex diseases） （Fig. 1）. However, several authors have gathered evidence indicating a high incidence of false positive findings in mtDNA case-control association studies. Raule et al. （2007） and Herrnstadt and Howell （2004） showed various problems affecting mtDNA case-control association studies. Salas et al.
基金supported by the Victorian Government’s Operational Infrastructure Support ProgramResearch Training Program scholarship(to S.K.)+2 种基金supported by Italian Ministry of Health Young Investigator(GR-2011-02347754 to E.L.)Fondazione Istituto di Ricerca PediatricaeCittàdella Speranza(18-04 to E.L.)supported by the Australian NHMRC Centre of Research Excellence in Speech and Language Neurobiology(CRE-SLANG)(1116976)
文摘Pathogenic variants in methyl-Cp G protein 2(MECP2;OMIM300005)result in an X-linked,severe,and progressive epigenetic disorder,Rett syndrome(RTT,OMIM:312750),that predominantly affects females(Rett,1966).Using Neul’s revised diagnostic criteria,affected individuals can be clinically classified as classic or atypical RTT(Neul et al.,2010).
