A novel MT-CO2 variant causing cerebellar ataxia and neuropathy: The role of muscle biopsy in diagnosis and defining pathogenicity
Titel:
A novel MT-CO2 variant causing cerebellar ataxia and neuropathy: The role of muscle biopsy in diagnosis and defining pathogenicity
Auteur:
Baty, Karen Farrugia, Maria E. Hopton, Sila Falkous, Gavin Schaefer, Andrew M. Stewart, William Willison, Hugh J. Reilly, Mary M. Blakely, Emma L. Taylor, Robert W. Ng, Yi Shiau