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Pathogenic mtDNA mutations causing mitochondrial myopathy: the need for muscle biopsy by Hardy, S, Blakely, E, Purvis, A, Rocha, M, Ahmed, S, Falkous, G, Poulton, J, Rose, M, O'Mahony, O, Bermingham, N, Dougan, C, Ng, Y, Horvath, R, Turnbull, D, Gorman, G, Taylor, R
Published 2016Journal article -
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Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability by Erdinc, D, Rodríguez‐Luis, A, Fassad, MR, Mackenzie, S, Watson, CM, Valenzuela, S, Xie, X, Menger, KE, Sergeant, K, Craig, K, Hopton, S, Falkous, G, Poulton, J, Garcia‐Moreno, H, Giunti, P, de Moura Aschoff, CA, Morales Saute, JA, Kirby, AJ, Toro, C, Wolfe, L, Novacic, D, Greenbaum, L, Eliyahu, A, Barel, O
Published 2023Journal article