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Atypical laminopathy phenotype: recurrent exertional hyperCKemia and metabolic syndrome in a patient with an LMNA c.659g>a [p.(ARG220HIS)] variant

: International Clinical Pathology Journal
: Marah Obaid,¹ Reema AI Rifaei,¹ Hussam Abu-Farsakh²

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Keywords

laminopathy, familial partial lipodystrophy, hyperCKemia, LMNA, Rhabdomyolysis, McArdle disease mimic

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