参考文献/References:
[1] El-Hattab AW,Scaglia F.Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options[J].Neurotherapeutics,2013,10(2):186-198.
[2] Ramón J,Vila-Julià F,Molina-Granada D,et al.Therapy prospects for mitochondrial DNA maintenance disorders[J].Int J Mol Sci,2021,22(12):6447.
[3] Viscomi C,Zeviani M.MtDNA-maintenance defects: syndromes and genes[J].J Inherit Metab Dis,2017,40(4):587-599.
[4] Garone C,Tadesse S,Hirano M.Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy[J].Brain,2011,134(Pt 11):3326-3332.
[5] Hirano M,Carelli V,de Giorgio R,et al.Mitochondrial neurogastrointestinal encephalomyopathy(MNGIE): position paper on diagnosis, prognosis, and treatment by the MNGIE International Network[J].J Inherit Metab Dis,2021,44(2):376-387.
[6] Nishino I,Spinazzola A,Hirano M.MNGIE: from nuclear DNA to mitochondrial DNA[J].Neuromuscul Disord,2001,11(1):7-10.
[7] Shaibani A,Shchelochkov OA,Zhang SL,et al.Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B[J].Arch Neurol,2009,66(8):1028-1032.
[8] Van Goethem G,Schwartz M,Löfgren A,et al.Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy[J].Eur J Hum Genet,2003,11(7):547-549.
[9] Vissing J,Ravn K,Danielsen ER,et al.Multiple mtDNA deletions with features of MNGIE[J].Neurology,2002,59(6):926-929.
[10] Tang S,Dimberg EL,Milone M,et al.Mitochondrial neurogastrointestinal encephalomyopathy(MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations[J].J Neurol,2012,259(5):862-868.
[11] Prasun P,Koeberl DD.Mitochondrial neurogastrointestinal encephalomyopathy(MNGIE)-like phenotype in a patient with a novel heterozygous POLG mutation[J].J Neurol,2014,261(9):1818-1819.
[12] Yasuda K,Murase N,Yoshinaga K,et al.Leukoencephalopathy with a case of heterozygous POLG mutation mimicking mitochondrial neurogastrointestinal encephalomyopathy(MNGIE)[J].J Clin Neurosci,2019,61:302-304.
[13] Huang HY,Yang XL,Liu L,et al.Leukoencephalopathy in mitochondrial neurogastrointestinal Encephalomyopathy-Like syndrome with Polymerase-Gamma mutations[J].Ann Indian Acad Neurol,2019,22(3):325-327.
[14] Felhi R,Sfaihi L,Charif M,et al.Next Generation sequencing in family with MNGIE syndrome associated to optic atrophy: novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletion[J].Clin Chim Acta,2019,488:104-110.
[15] Ropp PA,Copeland WC.Cloning and characterization of the human mitochondrial DNA polymerase, DNA polymerase gamma[J].Genomics,1996,36(3):449-458.
[16] Barca E,Long YL,Cooley V,et al.Mitochondrial diseases in North America: an analysis of the NAMDC Registry[J].Neurol Genet,2020,6(2):e402.
[17] Cohen B.H. CPF. POLG-related disorders[J]. GeneReviews[Internet] University of Washington; Seattle: 2018 Accessed November 1,2020.
[18] Horvath R,Hudson G,Ferrari G,et al.Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene[J].Brain,2006,129(Pt 7):1674-1684.
[19] Rahman S,Copeland WC.POLG-related disorders and their neurological manifestations[J].Nat Rev Neurol,2019,15(1):40-52.
[20] Pacitti D,Levene M,Garone C,et al.Mitochondrial neurogastrointestinal encephalomyopathy: into the fourth decade, what we have learned so far[J].Front Genet,2018,9:669.
[21] Hikmat O,Naess K,Engvall M,et al.Elevated cerebrospinal fluid protein in POLG-related epilepsy: diagnostic and prognostic implications[J].Epilepsia,2018,59(8):1595-1602.
[22] Zeviani M,Viscomi C.Mitochondria and neurodegeneration[J].Cells,2022,11(4):637.
[23] Di Meo I,Auricchio A,Lamperti C,et al.Effective AAV-mediated gene therapy in a mouse model of ethylmalonic encephalopathy[J].EMBO Mol Med,2012,4(9):1008-1014.