Caveolinopathy: clinical, histological and muscle imaging features and follow-up in a multicenter retrospective cohort.
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DOI: 10.1111/ene.15832
Abstract: BACKGROUND CAV3 gene mutations, mostly inherited as an autosomal dominant trait, cause various skeletal muscle diseases. Clinical presentations encompass proximal myopathy, distal myopathy, or an isolated persistent high creatine kinase (CK) with a major overlapping… read more here.
Keywords: caveolinopathy clinical; retrospective cohort; muscle; muscle imaging ... See more keywords