Abstract
A 60 year old gentleman is presented with gradually progressive weakness of distal and proximal lower limb muscles. He had a mildly raised creatine kinase and myopathic changes on electromyography. Muscle biopsy showed rimmed vacuoles with no MHC-I upregulation. Additional immunostaining showed changes supportive of myofibrillar myopathy, with a pathogenic mutation found on myotilin gene sequencing.
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References
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Morrow, J.M., Holton, J.L., Parton, M.J. (2017). Atypical Phenotype, MRI and Histology. In: Manji, H., Turner, C., Evans, M. (eds) Neuromuscular Disease . Springer, London. https://doi.org/10.1007/978-1-4471-2389-7_35
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DOI: https://doi.org/10.1007/978-1-4471-2389-7_35
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