Abstract
We describe a case of a 37-year-old woman who presented with mild, slowly progressive, proximal limb muscle weakness. Examination showed mild proximal limb muscle weakness and bilateral calf hypertrophy. Serum creatine kinase level was moderately elevated. Electromyography study showed an irritable myopathy. Muscle biopsy revealed a lipid storage myopathy. Subsequent investigation revealed carnitine deficiency. The clinical presentation, muscle biopsy features, diagnostic evaluation, and management of lipid storage myopathies are briefly reviewed.
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Golden, E., Zhou, L. (2020). A 37-Year-Old Woman with Leg Weakness and CK Elevation. In: Zhou, L., Burns, D., Cai, C. (eds) A Case-Based Guide to Neuromuscular Pathology. Springer, Cham. https://doi.org/10.1007/978-3-030-25682-1_14
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DOI: https://doi.org/10.1007/978-3-030-25682-1_14
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