Aug 2026
Mitochondrial abnormalities in Charcot-Marie-Tooth disease: insights from a family harbouring a novel GDAP1 variant.
A novel GDAP1 frameshift variant is reported that disrupts mitochondrial structure and bioenergetics, underscoring GDAP1's role in mitochondrial quality control and underscoring GDAP1's role in mitochondrial quality control.
Shivani Sharma, M. Nagappa, Gayathri Narayanappa et al.
· Neuromuscular Disorders · 0 citations