| {"0": "Ragged red muscle fibers", "1": "Abnormal basal ganglia mri signal intensity", "2": "Muscle abnormality related to mitochondrial dysfunction", "3": "Exercise intolerance", "4": "Ventricular arrhythmia", "5": "Muscle stiffness", "6": "Increased csf lactate", "7": "Dicarboxylic aciduria", "8": "Abnormal activity of mitochondrial respiratory chain", "9": "Decreased plasma carnitine", "10": "Limb girdle muscle weakness", "11": "Multifocal epileptiform discharges", "12": "Cyanosis", "13": "Gastrointestinal carcinoma", "14": "Shoulder girdle muscle weakness", "15": "Abnormal circulating cholesterol concentration", "16": "Organic aciduria", "17": "Focal t2 hyperintense basal ganglia lesion", "18": "Abnormality of the musculature of the hand", "19": "Abnormal nerve conduction velocity", "20": "Ketosis", "21": "Cardiac conduction abnormality", "22": "Abnormality of peripheral nerves", "23": "Abnormal urine ph", "24": "Migraine", "25": "Renal agenesis", "26": "Abnormal muscle fiber morphology", "27": "Abnormal circulating fatty acid anion concentration", "28": "Fasciculations", "29": "Pallor", "30": "Tinnitus", "31": "Abnormal circulating carbohydrate concentration", "32": "Decreased activity of mitochondrial complex i", "33": "Increased serum pyruvate", "34": "Normochromic anemia", "35": "Decreased activity of the pyruvate dehydrogenase complex", "36": "Hypoglycemic coma", "37": "Episodic vomiting", "38": "Bradycardia", "39": "Pure red cell aplasia", "40": "Macrocytic anemia", "41": "Cortical dysplasia", "42": "Respiratory distress", "43": "Progressive cerebellar ataxia", "44": "Diffuse cerebral atrophy", "45": "Abnormality of skull ossification", "46": "Abnormal csf metabolite level", "47": "Abnormality of the thenar eminence", "48": "Partial duplication of the phalanx of hand", "49": "Arthritis"} |