Novel genetic and neuropathological insights in neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP)
Claeys, Kristl × Abicht, Angela Häusler, Martin Kleinle, Stephanie Wiesmann, Martin Schulz, Jörg B Horvath, Rita Weis, Joachim #
John Wiley & Sons
Muscle & Nerve vol:54 issue:2
Neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP) is caused by m.8993T>G/C mutations in the mitochondrial adenosine triphosphate synthase subunit 6 gene (MT-ATP6). Traditionally, heteroplasmy levels between 70% and 90% lead to NARP, and >90% result in Leigh syndrome.