Table 1.

Clinical and electrophysiologic findings in patients with the m.9185T>C mutation in MT-ATP6

Abbreviations: ADHD = attention deficit hyperactivity disorder; CMTES2 = Charcot-Marie-Tooth examination score 2 (total score 28); CMTNS2 = Charcot-Marie-Tooth neuropathy score 2 (total score 36, mild neuropathy: 0−10; moderate neuropathy: 11−20; severe neuropathy: >20); DM = diabetes mellitus; LD = learning difficulties; LL = lower limbs; mod = moderate; N = no; NCS = nerve conduction studies; ND = not done; OCD = obsessive compulsive disorder; prox = proximal; SAPs = sensory nerve action potentials; SNHL = sensorineural hearing loss; U = unknown; UL = upper limbs; UMN = upper motor neuron; Y = yes.