Mitochondrial ultrastructural defects in NDUFS3-related disorder

We describe a girl with a history of infantile-onset nonepileptic myoclonus, who developed myopathy at the age of 2 years. Next-generation sequencing revealed compound heterozygous for two variants in the NDUSF3 gene. The electron-microscopic study of the skeletal muscle showed an increase in the number of mitochondria inside the myofibers; mitochondria were variably enlarged with some irregularity and were aligned perpendicular to the myofibrils in a stacked-up manner. This is the first description of mitochondrial ultrastructural abnormality in an individual with NDUFS3-related disorder.

Source: Journal of Pediatric Neurosciences - November 1, 2022 Category: Neuroscience Authors: Debopam Samanta Aravindhan Veerapandiyan Thomas A Burrow Murat Gokden Source Type: research