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Region Hovedstaden - en del af Københavns Universitetshospital
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Recurrent myoglobinuria and deranged acylcarnitines due to a mutation in the mtDNA MT-CO2 gene

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  1. Clinical characterization of delayed alcohol-induced headache: A study of 1,108 participants

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  2. Evaluation of inflammatory lesions over 2 years in facioscapulohumeral muscular dystrophy

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  3. Permanent muscle weakness in hypokalemic periodic paralysis

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  4. Intrarater reliability and validity of outcome measures in myotonic dystrophy type 1

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  5. Accuracy of a machine learning muscle MRI-based tool for the diagnosis of muscular dystrophies

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  1. Phenotypic Spectrum of α-Dystroglycanopathies Associated With the c.919T>a Variant in the FKRP Gene in Humans and Mice

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  2. Vacuoles, Often Containing Glycogen, Are a Consistent Finding in Hypokalemic Periodic Paralysis

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  3. Editorial: Remaining diagnostic issues and start of a treatment era for muscle diseases

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Vis graf over relationer
Mitochondrial myopathies commonly present with exercise intolerance typified by breathlessness and fatigue on exercise. In contrast, exercise-induced rhabdomyolysis and myoglobinuria occur rarely. We present a 43-year-old man with a lifelong history of exercise intolerance associated with myalgia and recurrent episodes of exercise-induced myoglobinuria. From early childhood, he had weekly episodes of myoglobinuria, which became infrequent (every 3 months) as an adult. Carnitine transporter defect was suspected, because carnitine levels were low in muscle. During childhood, he was treated with carnitine (4-5 g daily), but without effect. With the advent of acylcarnitines, profiles mimicking but not diagnostic for multiple acyl-CoA dehydrogenase deficiency (MADD) were found. This led to treatment with riboflavin (100 mg/day for 3 years), again without effect. Clinical examination, including echocardiography, revealed no signs of involvement from other organs, and all relatives were asymptomatic.
OriginalsprogEngelsk
TidsskriftNeurology
Vol/bind80
Udgave nummer20
Sider (fra-til)1908-10
Antal sider3
ISSN0028-3878
DOI
StatusUdgivet - 14 maj 2013

ID: 41953371