MPV17 and multiminicore myopathy: MMD represent a wide range of autosomal dominant or recessive disorders directly impairing mtDNA replication (POLG, POLG2, TWNK, TFAM, RNASEH1, MGME1, DNA2 and TOP3A), disrupting mitochondrial nucleotide metabolism (TK2, DGUOK, SUCLG1, SUCLA2, ABAT, RRM2B, TYMP, SLC25A4, AGK, and MPV17), or affecting mitochondrial dynamics (OPA1, MFN2, and FBXL4) [9,14,16,232,235,237,243,324,325].