New autosomal recessive cerebellar ataxia disorder in a large inbred Lebanese family
2001; Wiley; Volume: 101; Issue: 2 Linguagem: Inglês
10.1002/1096-8628(20010615)101
ISSN1096-8628
AutoresA. M�garban�, Valérie Delague, M‐M Ruchoux, E. Rizkallah, C. Maurage, Louis Viollet, Nathalie Rouaix‐Emery, Andoni Urtizberea,
Tópico(s)Mitochondrial Function and Pathology
ResumoAmerican Journal of Medical GeneticsVolume 101, Issue 2 p. 135-141 Research Article New autosomal recessive cerebellar ataxia disorder in a large inbred Lebanese family A. Mégarbané, Corresponding Author A. Mégarbané megarban@dm.net.lb Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, Beirut, LebanonUnité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, 42, rue de Grenelle, 75007 Paris, France.Search for more papers by this authorV. Delague, V. Delague Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, Beirut, LebanonSearch for more papers by this authorM.M. Ruchoux, M.M. Ruchoux Service de Neuro-pathologie, CHRU-Lille, FranceSearch for more papers by this authorE. Rizkallah, E. Rizkallah Service de Neuro-pédiatrie, Hôpital Saint Georges, Beirut, LebanonSearch for more papers by this authorC.A. Maurage, C.A. Maurage Service de Neuro-pathologie, CHRU-Lille, FranceSearch for more papers by this authorL. Viollet, L. Viollet Service de Pédiatrie, Hôpital de Garches, Paris, FranceSearch for more papers by this authorN. Rouaix-Emery, N. Rouaix-Emery Laboratoire de Biochimie, CHRU-Lille, FranceSearch for more papers by this authorA. Urtizberea, A. Urtizberea Institut de Myologie, Hôpital de la Salpétrière, Paris, FranceSearch for more papers by this author A. Mégarbané, Corresponding Author A. Mégarbané megarban@dm.net.lb Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, Beirut, LebanonUnité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, 42, rue de Grenelle, 75007 Paris, France.Search for more papers by this authorV. Delague, V. Delague Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, Beirut, LebanonSearch for more papers by this authorM.M. Ruchoux, M.M. Ruchoux Service de Neuro-pathologie, CHRU-Lille, FranceSearch for more papers by this authorE. Rizkallah, E. Rizkallah Service de Neuro-pédiatrie, Hôpital Saint Georges, Beirut, LebanonSearch for more papers by this authorC.A. Maurage, C.A. Maurage Service de Neuro-pathologie, CHRU-Lille, FranceSearch for more papers by this authorL. Viollet, L. Viollet Service de Pédiatrie, Hôpital de Garches, Paris, FranceSearch for more papers by this authorN. Rouaix-Emery, N. Rouaix-Emery Laboratoire de Biochimie, CHRU-Lille, FranceSearch for more papers by this authorA. Urtizberea, A. Urtizberea Institut de Myologie, Hôpital de la Salpétrière, Paris, FranceSearch for more papers by this author First published: 29 May 2001 https://doi.org/10.1002/1096-8628(20010615)101:2 3.0.CO;2-JCitations: 15Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat Abstract A large inbred Lebanese pedigree with congenital spastic ataxia, microcephaly, optic atrophy, short stature, speech defect, abnormal osmiophilic pattern of skin vessels, cerebellar atrophy, and severe mental retardation transmitted as an autosomal recessive trait has been studied. None of the children had any evidence of a metabolic disease, and the analysis of respiratory chain complex abnormalities was unremarkable. Only one child had a history of perinatal difficulties. Differential diagnosis and the possibility that this disorder is a hitherto unreported one are discussed. © 2001 Wiley-Liss, Inc. Citing Literature Volume101, Issue215 June 2001Pages 135-141 RelatedInformation
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