Margarita Murzina

   Margarita grew and developed according to the standards of her age. The girl suffered an intestinal infection in January 2023. After two months, the parents noticed that the baby had become less active, and there were complaints of muscle weakness. In June 2023, muscle weakness worsened, and it showed up in the upper extremities. Margarita stopped climbing the stairs and jumping. The girl was diagnosed with progressive metabolic (mitochondrial?) myopathy with pronounced proximal tetraparesis, hyperfermentemia, and hyperlactatemia. To clarify the diagnosis, the child is shown to undergo complete genomic sequencing. Margarita was supported by «Chance» program.