MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity
about
Mitochondrial diabetes in children: seek and you will find itDe novo mtDNA point mutations are common and have a low recurrence risk.Friedrich Nietzsche (1844-1900): a classical case of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome?A new phenotype of mitochondrial disease characterized by familial late-onset predominant axial myopathy and encephalopathy.Mitochondrial threshold effects.Pathogenic mechanism of a human mitochondrial tRNAPhe mutation associated with myoclonic epilepsy with ragged red fibers syndrome.Acute mitochondrial encephalopathy reflects neuronal energy failure irrespective of which genome the genetic defect affects.Diffuse magnetic resonance imaging white-matter changes in a 15-year-old boy with mitochondrial encephalomyopathy.Phenotypes and mitochondrial DNA substitutions in families with A3243G mutation.Mutations in mitochondrially encoded complex I enzyme as the second common cause in a cohort of Chinese patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes.The appearance of ADCs in the non-affected areas of the patients with MELAS.Significant Association Between Low Mitochondrial DNA Content in Peripheral Blood Leukocytes and Ischemic Stroke.Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency.The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management.Sperm Mitochondrial Mutations as a Cause of Low Sperm MotilityMitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) in the older adult
P2860
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P2860
MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity
description
1998 nî lūn-bûn
@nan
1998年の論文
@ja
1998年学术文章
@wuu
1998年学术文章
@zh-cn
1998年学术文章
@zh-hans
1998年学术文章
@zh-my
1998年学术文章
@zh-sg
1998年學術文章
@yue
1998年學術文章
@zh
1998年學術文章
@zh-hant
name
MELAS: a new disease associate ...... further genetic heterogeneity
@ast
MELAS: a new disease associate ...... further genetic heterogeneity
@en
type
label
MELAS: a new disease associate ...... further genetic heterogeneity
@ast
MELAS: a new disease associate ...... further genetic heterogeneity
@en
prefLabel
MELAS: a new disease associate ...... further genetic heterogeneity
@ast
MELAS: a new disease associate ...... further genetic heterogeneity
@en
P2093
P2860
P356
P1476
MELAS: a new disease associate ...... further genetic heterogeneity
@en
P2093
Morgan-Hughes JA
P2860
P304
P356
10.1136/JNNP.65.4.512
P407
P577
1998-10-01T00:00:00Z