Search Results - "Knowles, Charlotte V Y"
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Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines
Published in European journal of human genetics : EJHG (01-02-2023)“…Primary mitochondrial disease describes a diverse group of neuro-metabolic disorders characterised by impaired oxidative phosphorylation. Diagnosis is…”
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Journal Article -
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Clinically proven mtDNA mutations are not common in those with chronic fatigue syndrome
Published in BMC medical genetics (16-03-2017)“…Chronic Fatigue Syndrome (CFS) is a prevalent debilitating condition that affects approximately 250,000 people in the UK. There is growing interest in the role…”
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Camptocormia and shuffling gait due to a novel MT-TV mutation: Diagnostic pitfalls
Published in Neurology. Genetics (01-06-2017)Get full text
Journal Article