Novel mutation in TNPO3 causes congenital limb-girdle myopathy with slow progression
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DOI: 10.1212/nxg.0000000000000337
Abstract: Objective We report a second family with autosomal dominant transportinopathy presenting with congenital or early-onset myopathy and slow progression, causing proximal and less pronounced distal muscle weakness. Methods Patients had clinical examinations, muscle MRI, EMG,… read more here.
Keywords: muscle; tnpo3; myopathy slow; slow progression ... See more keywords