Pathogenicity of the Homoplasmic m.8701A>G Variant Requires Confirmation

Eitemau Tebyg

• Diagnosing Kearns-Sayre Syndrome Requires Genetic Confirmation
  gan: Finsterer, Josef, et al.
  Cyhoeddwyd: (2016)
• Assessment of the phenotype genotype variability and correlation in m.3243A > G mutation carriers requires prospective studies
  gan: Finsterer, Josef, et al.
  Cyhoeddwyd: (2016)
• Mitochondrial vasculopathy due to the m.3243A > G mutation is not restricted to the carotid artery
  gan: Finsterer, Josef, et al.
  Cyhoeddwyd: (2016)
• Onset of MELAS due to the m.3243A > G mutation is early if the large phenotypic variability is considered()()
  gan: Finsterer, Josef, et al.
  Cyhoeddwyd: (2016)
• Mitochondrial myopathy, dysmorphism, exercise-induced vomiting and tachycardia the mutation m.4831G > A()
  gan: Finsterer, Josef, et al.
  Cyhoeddwyd: (2017)