TMEM126B

Clinical Characteristics

The adults and children who have been found to have faulty TMEM126B all had clinical symptoms that affected their muscles – some of the children grew up to need a wheelchair in adulthood. As with lots of other types of mitochondrial disease, a muscle biopsy might be needed to assist diagnosis. Brain scans, lumbar puncture and blood tests may also provide additional information that there might be a mitochondrial problem.