| {"0": "Sensorimotor neuropathy", "1": "Abnormal muscle fiber morphology", "2": "Muscle stiffness", "3": "Ragged red muscle fibers", "4": "Easy fatigability", "5": "Limb girdle muscle weakness", "6": "Abnormality of the shoulder girdle musculature", "7": "Shoulder girdle muscle weakness", "8": "Variable expressivity", "9": "Nasogastric tube feeding in infancy", "10": "Fatigable weakness of respiratory muscles", "11": "Hand muscle weakness", "12": "Fatigable weakness of bulbar muscles", "13": "Ventricular tachycardia", "14": "Amyotrophic lateral sclerosis", "15": "Open mouth", "16": "Xerostomia", "17": "Fatigable weakness of swallowing muscles", "18": "Bradycardia", "19": "Muscle fiber inclusion bodies", "20": "Respiratory failure", "21": "Bulbar signs", "22": "Episodic vomiting", "23": "Generalized muscle weakness", "24": "Distal lower limb amyotrophy", "25": "Knee flexion contracture", "26": "Distal muscle weakness", "27": "Waddling gait", "28": "Frequent falls", "29": "Abnormal brainstem mri signal intensity", "30": "Neurodegeneration", "31": "Abnormal delivery", "32": "Increased muscle lipid content", "33": "Lower limb amyotrophy", "34": "Distal lower limb muscle weakness", "35": "Abnormal middle phalanx morphology of the hand", "36": "Dysdiadochokinesis", "37": "Abnormal synaptic transmission at the neuromuscular junction", "38": "Muscle abnormality related to mitochondrial dysfunction", "39": "Proximal amyotrophy", "40": "Neck muscle weakness", "41": "Syncope", "42": "Steppage gait", "43": "Shallow orbits", "44": "Abnormal csf protein level", "45": "Abnormal tongue morphology", "46": "Incoordination", "47": "Abnormal larynx physiology", "48": "Wormian bones", "49": "Phenotypic variability"} |