Asymmetric muscle weakness due to ACTA1 mosaic mutations

Abstract excerpt

Objective To characterize 2 unrelated patients with either asymmetric or unilateral muscle weakness at the clinical, genetic, histologic, and ultrastructural level. Methods The patients underwent thorough clinical examination, whole-body MRI, and exome sequencing. Muscle morphology was assessed by histology and electron microscopy. Results Both patients presented with early-onset hypotonia, delayed motor...

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