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Early-onset Behr syndrome due to compound heterozygous mutations in OPA1

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Bibliographic Details
Published in:	Brain (London, England : 1878) England : 1878), 2014-10, Vol.137 (Pt 10), p.e301-e301
Main Authors:	Bonneau, Dominique, Colin, Estelle, Oca, Florine, Ferré, Marc, Chevrollier, Arnaud, Guéguen, Naïg, Desquiret-Dumas, Valérie, N'Guyen, Sylvie, Barth, Magalie, Zanlonghi, Xavier, Rio, Marlène, Desguerre, Isabelle, Barnerias, Christine, Momtchilova, Marta, Rodriguez, Diana, Slama, Abdelhamid, Lenaers, Guy, Procaccio, Vincent, Amati-Bonneau, Patrizia, Reynier, Pascal
Format:	Article
Language:	English
Subjects:	Adolescent Age of Onset Ataxia - genetics Blindness - etiology Blindness - genetics Child Constipation - etiology Deglutition Disorders - etiology DNA - genetics Female GTP Phosphohydrolases - genetics GTP Phosphohydrolases - metabolism Hearing Loss - genetics Heterozygote Humans Intellectual Disability - genetics Life Sciences Magnetic Resonance Imaging Male Mutation - genetics Mutation - physiology Optic Atrophy - congenital Optic Atrophy - genetics Optic Atrophy, Autosomal Dominant - complications Optic Atrophy, Autosomal Dominant - genetics Optic Atrophy, Autosomal Dominant - pathology Peripheral Nervous System Diseases - complications Peripheral Nervous System Diseases - genetics Peripheral Nervous System Diseases - pathology Spasm - genetics
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