Case report
Open access
Aug 2026
Identification of a novel likely pathogenic MT-TS2 variant in a patient with mitochondrial myopathy, retinitis pigmentosa and sensorineural hearing loss.
A 55-year-old male patient with Kallmann syndrome, retinitis pigmentosa and congenital sensorineural hearing loss presented with a one-year history of generalized weakness and imbalance, illustrating a new potentially pathogenic variant in the MT-TS2 gene.
Madalena Couto, Mafalda Delgado Soares, Pedro Coelho et al.
· Neuromuscular Disorders · 0 citations