région (1) protéine (1) nécrose (1) mutation (1) métabolisme (1) perte (1) analyse (1) gène (1) maladie (1) Deterioration (1) Defects (1) Phenotype (1) Dysplasia (1) Vision (1) Tremor (1) Symptoms (1) Spasticity (1) Pulmonary hypertension (1) Patients (1) Nystagmus (1) Neuropathy (1) Necrosis (1) Myelination (1) Months (1) Metabolism (1) Messenger RNA (1) Functions (1) Families (1) Evaluation (1) Defects (1)