(1) Number of affected organs (range: 0–14) (muscle, CNS, endocrine organs, heart, intestines, nerves, ears, eyes, bone marrow, kidneys, skin, bones, lungs, and arteries) (2) Number of manifestations per organ Muscle (ophthalmoplegia (3), ptosis (3), easy fatigability (exercise intolerance) (3), limb weakness (2), hyper-CK-emia (2), wasting (1), respiratory insufficiency (1), myoglobinuria (1), cramping (1), myalgia (1), abnormal lactate stress test (1), double vision (diplopia) (1), muscle stiffness (1), fasciculations (1), muscle rupture (1)) CNS (epilepsy (3), atrophy (3), ataxia (3), Parkinson (3), dementia (3), stroke-like episodes (2), migraine (2), dystonia (1), tremor (1), leukoencephalopathy (white matter lesions) (1), spasticity (1), dysarthria (1), psychosis (1), confusion (1), mild cognitive impairment (1), basal ganglia calcification (1), dilative arteriopathy (1), delayed visually evoked potentials (1), myelopathy (1)) Heart (hypertrophic, dilated, restrictive CMP (3), heart failure (2), systolic dysfunction (2), arrhythmias (1), arterial hypertension (1), noncompaction (1), pulmonary hypertension (1), aortic root ectasia (1), coronary heart disease (1), congenital heart disease (1)) Intestines (hepatopathy (3), vomiting (1), diarrhea(1), pancreatitis (1), steatosis hepatis (1), nonspecific colitis (1), diverticulosis (1), sialadenitis (1)) Nerves (neuropathy (3), neuronopathy (1)) Eyes (optic atrophy (3), retinopathy (3), cataract (1), glaucoma (1)) Ears (hypoacusis (3), tinnitus (1)) Kidneys (renal insufficiency (2), renal failure (2), tubular acidosis (1), Fanconi syndrome (1), cysts (1), nephrolithiasis (1)) Arteries (dissection (1), spontaneous rupture (1), aneurysm (1), ectasia (1), dilative arteriopathy (1), atherosclerosis (1)) Bone marrow (anemia (2), leukopenia (1), thrombopenia (1)) Bones (skeletal deformities (1), polyarthralgia (1), arthrosis (1)) Dermis (psoriasis (1), lipomatosis (1), vitiligo (1), edema (1), hypertrichosis (1), baldness, alopecia (1), madarosis (1), skin rashes (1), seborrheic eczema (1) (3) Frequency of citations in PubMed (>100 citations: 3 points, 50–100 citations: 2 points, <50 citations; 1 point);
