has material basis in germline mutation in SURF1 Charcot-Marie-Tooth disease type 4K https://www.malacards.org/card/charcot_marie_tooth_disease_demyelinating_type_4k https://www.malacards.org/card/charcot_marie_tooth_disease_type_4k MONDO:0014733 Charcot-Marie-Tooth disease type 4 caused by mutation in SURF1 Orphanet:391351 CMT4K Charcot-Marie-Tooth disease type 4K GARD:0017616 DOID:0110187 SURF1-related Charcot-Marie-Tooth disease type 4 SURF1-related Charcot-Marie-Tooth disease type 4 (CMT4K) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, lactic acidosis, areflexia and severely reduced motor nerve conduction velocities (25 m/s or less). Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions). SURF1 Charcot-Marie-Tooth disease type 4 OMIM:616684 SCTID:765047006 UMLS:C4225246 MEDGEN:895560 SURF1-related CMT4 Charcot-Marie-Tooth disease, type 4k SURF1-related severe demyelinating Charcot-Marie-Tooth disease mitochondrial oxidative phosphorylation disorder Charcot-Marie-Tooth disease type 4