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peripheral nervou system

A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like…

Mitochondrial DNA (mtDNA) contains 13 genes that encode essential subunits of the oxidative phosphorylation (OXPHOS) complexes, 2 rRNAs and 22 tRNAs . The mitochondrial tRNA (mt-tRNA) genes, which contribute less than 10% of the total…

Two Japanese LGMDR25 patients with a biallelic recurrent nonsense variant of BVES

POPDC1, the protein product of the BVES gene, is predominantly expressed in striated muscles, highest in skeletal muscles . BVES variants are associated with limb-girdle muscular dystrophy autosomal recessive 25 (LGMDR25), characterized by…