Mitochondrial diseases & metabolic myopathies

We report here four additional patients (P1-P4), from three kindreds, including two sisters (P1, P2) with homozygous or compound heterozygous mid-domain variants in RBCK1.

Source: Neuromuscular Disorders - September 28, 2020 Category: Neurology Authors: R. Phadke, C. Hedberg-Oldfors, R. Scalco, D. Lowe, M. Ashworth, M. Novelli, R. Vara, A. Merwick, H. Amer, R. Sofat, M. Sugarman, A. Jovanovic, M. Roberts, V. Nakou, A. King, I. Bodi, H. Jungbluth, A. Oldfors, E. Murphy Source Type: research