Description
The authors observe loss of cristae junctions and internal membrane destabilization in motor end plate mitochondria, but the mechanistic link between CHCHD10 mutation and these ultrastructural changes is not explained. This gap limits understanding of the primary mitochondrial defect driving the disease cascade.
Gap type: unexplained_observation Source paper: Mitochondrial defect in muscle precedes neuromuscular junction degeneration and motor neuron death in CHCHD10 (2019, Acta neuropathologica, PMID:30874923)