A Young Woman With Hypertonia, Severe Scoliosis, and EncephalopathyJAMA Neurol 81:83-84, Hua,L.,et al, 2024
Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing LossNeurol 90:e625-e631, Set, K.K.,et al, 2018