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MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy.
Bugiardini E, Mitchell AL, Rosa ID, Horning-Do HT, Pitmann AM, Poole OV, Holton JL, Shah S, Woodward C, Hargreaves I, Quinlivan R, Amunts A, Wiesner RJ, Houlden H, Holt IJ, Hanna MG, Pitceathly RDS, Spinazzola A. Bugiardini E, et al. Among authors: pitmann am. Hum Mol Genet. 2019 Aug 15;28(16):2711-2719. doi: 10.1093/hmg/ddz093. Hum Mol Genet. 2019. PMID: 31039582 Free PMC article.
The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies.
Bugiardini E, Morrow JM, Shah S, Wood CL, Lynch DS, Pitmann AM, Reilly MM, Houlden H, Matthews E, Parton M, Hanna MG, Straub V, Yousry TA. Bugiardini E, et al. Among authors: pitmann am. Front Neurol. 2018 Jun 26;9:456. doi: 10.3389/fneur.2018.00456. eCollection 2018. Front Neurol. 2018. PMID: 29997562 Free PMC article.