| autosomaal dominante motorische en sensorische neuropathie type 2 door mutatie van diacylglycerol-O-acyltransferase 2 (aandoening) |
| autosomaal dominante motorische en sensorische neuropathie type 2 door DGAT2-mutatie |
| autosomaal dominante ziekte van Charcot-Marie-Tooth type 2 door DGAT2-mutatie
autosomaal dominante motorische en sensorische neuropathie type 2 door mutatie van diacylglycerol-O-acyltransferase 2
autosomaal dominante HMSN2 door DGAT2-mutatie
autosomaal dominante CMT2 door DGAT2-mutatie
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| Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation |
| Autosomal dominant Charcot-Marie-Tooth disease type 2 due to diacylglycerol O-acyltransferase 2 mutation
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| A rare autosomal dominant hereditary axonal motor and sensory neuropathy with characteristics of childhood onset of slowly progressive distal muscle weakness and atrophy primarily affecting the lower limbs, associated with sensory impairment and ataxia presenting with an unsteady, broad-based gait and frequent falls. Additional signs include decreased deep tendon reflexes and hand tremor. |
