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Comment on Chanoine et al. Is Hyperactive mTORC1 Signaling Responsible for the Phenotypic Expression (Diabetes, Hypoacusis) of the m.3243A>G Variant?
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本文引用的文献
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Habitual Sleep Deprivation is Associated with
Type 2 Diabetes: A Case-Control Study.
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Maternally Inherited Diabetes and Deafness is Phenotypically and Genotypically Heterogeneous.
J Neuroophthalmol. 2016 Sep;36(3):346-7. doi: 10.1097/WNO.0000000000000387.
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Visual, Ocular Motor, and Cochleo-Vestibular Loss in Patients With Heteroplasmic, Maternally-Inherited Diabetes Mellitus and Deafness (MIDD), 3243 Transfer RNA Mutation.
J Neuroophthalmol. 2016 Jun;36(2):134-40. doi: 10.1097/WNO.0000000000000340.
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Convulsion and cerebellar ataxia associated with maternally inherited diabetes and deafness: a case report.
Clin Case Rep. 2015 Jul;3(7):656-9. doi: 10.1002/ccr3.309. Epub 2015 Jun 11.
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A novel mutation MT-COIII m.9267G>C and MT-COI m.5913G>A mutation in mitochondrial genes in a Tunisian family with maternally inherited diabetes and deafness (MIDD) associated with severe nephropathy.
Biochem Biophys Res Commun. 2015 Apr 10;459(3):353-60. doi: 10.1016/j.bbrc.2015.01.151. Epub 2015 Feb 19.
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[Familial progressive external opthalmoplegia, parkinsonism and polyneuropathy associated with POLG1 mutation].
Rinsho Shinkeigaku. 2014;54(5):417-22. doi: 10.5692/clinicalneurol.54.417.
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Macular dystrophy associated with the mitochondrial DNA A3243G mutation: pericentral pigment deposits or atrophy? Report of two cases and review of the literature.
BMC Ophthalmol. 2014 Jun 6;14:77. doi: 10.1186/1471-2415-14-77.
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Maternally inherited diabetes and deafness (MIDD): diagnosis and management.
J Diabetes Complications. 2014 Jul-Aug;28(4):542-6. doi: 10.1016/j.jdiacomp.2014.03.006. Epub 2014 Mar 12.
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A review of maternally inherited diabetes and deafness.
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Focal segmental glomerulosclerosis associated with maternally inherited diabetes and deafness: clinical pathological analysis.
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