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ME/CFS: whole genome sequencing uncovers a misclassified case of glycogen storage disease type 13 previously diagnosed as ME/CFS
ME/CFS: whole genome sequencing uncovers a misclassified case of glycogen storage disease type 13 previously diagnosed as ME/CFS, by Donna Brown, Camille Birch, Jarred Younger, Elizabeth Worthey in Molecular Genetics and Metabolism Vol 132, Supp 1, April 2021, Pages S194-S195 … Continue reading
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Tagged alternative diagnosis, betaenolase gene, Donna Brown, Dr Camille Birch, Dr Elizabeth Worthey, Dr Jarred Younger, ENO3, exercise intolerance, glycogen storage disease type 13, GSD13, https://en.wikipedia.org/wiki/Glycogen_storage_disease, whole genome sequencing
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NICE draft ME/CFS guideline – diagnose after 3 months if 4 key symptoms persist
NICE draft ME/CFS guideline advice on diagnosis The draft NICE guideline is open for consultation until December 22nd 2020. Contact the helpline or use the contact form on this website with your comments for inclusion in the WAMES response. … Continue reading
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Tagged alternative diagnosis, diagnosis, National Institute for Health and Care Excellence, NICE guideline ME/CFS
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Mitochondrial myopathy – differential diagnosis for ME
Research abstract: Introduction: Symptoms of mitochondrial diseases and chronic fatigue syndrome (CFS) frequently overlap and can easily be mistaken. Methods: We report the case of a patient diagnosed with CFS and during follow-up was finally diagnosed with mitochondrial myopathy by … Continue reading
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Tagged alternative diagnosis, differential diagnosis, mitochondrial myopathy
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Hypopituitarism – an alternative diagnosis to ME or CFS
One of the conditions that can be wrongly diagnosed as CFS is post-traumatic hypopituitarism (PTHP). Symptoms include fatigue, muscle weakness, dizziness and nausea and can occur at any time after a head injury, even many years later. Other causes of … Continue reading
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Tagged alternative diagnosis, head injury, Hypopituitarism, pituitary gland, PTHP
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