Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation
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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 literatureIs 2D speckle tracking echocardiography useful for detecting and monitoring myocardial dysfunction in adult m.3243A>G carriers? - a retrospective pilot studyQuantification of gait in mitochondrial m.3243A > G patients: a validation study.Glucose metabolism derangements in adults with the MELAS m.3243A>G mutationSerum GDF15 Levels Correlate to Mitochondrial Disease Severity and Myocardial Strain, but Not to Disease Progression in Adult m.3243A>G Carriers.Clinical features of MELAS and its relation with A3243G gene point mutationMitochondrial DNA variants correlate with symptoms in myalgic encephalomyelitis/chronic fatigue syndrome.Inheritance of the m.3243A>G mutation.Quality of life, fatigue and mental health in patients with the m.3243A > G mutation and its correlates with genetic characteristics and disease manifestation.Mitochondrial disease in childhood: mtDNA encoded.Three families with 'de novo' m.3243A > G mutation.Clinical and Molecular Characteristics in 100 Chinese Pediatric Patients with m.3243A>G Mutation in Mitochondrial DNADiagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.Disease progression in patients with single, large-scale mitochondrial DNA deletions.Novel reproductive technologies to prevent mitochondrial disease.Association of mitochondrial DNA variants with myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) symptoms.Neuroimaging characteristics in mitochondrial encephalopathies associated with the m.3243A>G MTTL1 mutation.The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?NEWS and VIEWS: mitochondrial encephalomyopathies.Prediction of long-term prognosis by heteroplasmy levels of the m.3243A>G mutation in patients with the mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome.Reply to: Reduced Bone Mineral Density in m.3243A>G Carriers May Be Multifactorial.Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors.Anatomic & metabolic brain markers of the m.3243A>G mutation: A multi-parametric 7T MRI study.mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease.
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P2860
Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh
2012年學術文章
@zh-hant
name
Clinical features and heteropl ...... rying the m.3243A > G mutation
@ast
Clinical features and heteropl ...... rying the m.3243A > G mutation
@en
type
label
Clinical features and heteropl ...... rying the m.3243A > G mutation
@ast
Clinical features and heteropl ...... rying the m.3243A > G mutation
@en
prefLabel
Clinical features and heteropl ...... rying the m.3243A > G mutation
@ast
Clinical features and heteropl ...... rying the m.3243A > G mutation
@en
P2093
P2860
P1476
Clinical features and heteropl ...... rying the m.3243A > G mutation
@en
P2093
Jan A M Smeitink
Lambert P W J van den Heuvel
Mirian C H Janssen
Paul de Laat
Richard J T Rodenburg
Saskia Koene
P2860
P2888
P304
P356
10.1007/S10545-012-9465-2
P577
2012-03-09T00:00:00Z