Abstract
A 34 year old woman is presented with at least a 6 year history of gradually progressive proximal limb weakness. Creatine kinase was markedly elevated at 1891 (<140) with subclinical left ventricular dilatation on echocardiography. Genetic testing showed a homozygous mutation in the FKRP gene (c.826C > A) confirming diagnosis as limb girdle muscular dystrophy type 2I.
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Poppe M, Cree L, Bourke J, Eagle M, Anderson LVB, Birchall D, et al. The phenotype of limb-girdle muscular dystrophy type 2I. Neurology. 2003;60(8):1246–51.
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Morrow, J.M., Holton, J.L., Turner, C. (2017). A Common Cause of Progressive Proximal Weakness…. In: Manji, H., Turner, C., Evans, M. (eds) Neuromuscular Disease . Springer, London. https://doi.org/10.1007/978-1-4471-2389-7_38
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DOI: https://doi.org/10.1007/978-1-4471-2389-7_38
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