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Mitochondrial DNA and Disease
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Facioscapulohumeral Muscular Dystrophy in Early Childhood
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Mitochondrial Neurogastrointestinal Encephalomyopathy (MMGIE) :Clin Biochem & Genetic Features of Auto Recess Mitochond Disorder
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Hearing Loss in Facioscapulohumeral Muscular Dystrophy
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Hearing Loss in Myotonic Dystrophy
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Facioscapulohumeral Dystrophy Associated with Hearing Loss & Coats Syndrome
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A Woman with Progressive Painless Sequential Monocular Vision Loss
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Bilateral Hearing Loss and Constricted Visual Fields
BMJ 378:e070672, Sachdeva, G. & Shafquat, S., 2022
Wolfram Syndrome:Evidence of a Diffuse Neurodegenerative Disease by Magnetic Resonance Imaging
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Cockayne Syndrome: Review of 140 Cases
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Anderson-Fabry Disease
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The Peroxisome:Nervous System Role of a Previously Underrated Organelle, The 1987 Robert Wartenberg Lecture
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Phytanic Acid Storage Disease:Hearing Maintained After 15 Years of Dietary Treatment
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Heredopathia Atactica Polyneuritiformis
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Kearns-Sayre Syndrome & Hypoparathyroidism
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Neurological Manifestations of Fabry Disease in Female Carriers
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