Literature DB >> 9674814

Familial multiple symmetric lipomatosis associated with the A8344G mutation of mitochondrial DNA.

J Gámez1, A Playán, A L Andreu, C Bruno, C Navarro, C Cervera, M A Arbós, S Schwartz, J A Enriquez, J Montoya.   

Abstract

We describe familial multiple symmetric lipomatosis in a pedigree harboring the 8344 mutation in the tRNA(Lys) gene of mitochondrial DNA (mtDNA). The proband showed neuromuscular involvement but lacked the typical manifestations of myoclonic epilepsy and ragged-red fibers disease. The distribution of the mutation was unusual because the proportion of mutated genomes was higher in blood and lipomas than in muscle tissue.

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Year:  1998        PMID： 9674814     DOI： 10.1212/wnl.51.1.258

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  14 in total

1.  Genotype-phenotype correlation in the 5703G>A mutation in the tRNA(ASN) gene of mitochondrial DNA.

Authors:  C Vives-Bauza; M Del Toro; A Solano; J Montoya; A L Andreu; M Roig
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

2.  Madelung disease.

Authors:  Fang-ying Lin; Tsung-Lin Yang
Journal:  CMAJ       Date:  2012-06-25       Impact factor: 8.262

3.  Beyond cervical lipomas: myoclonus, gait disorder and multisystem involvement leading to mitochondrial disease.

Authors:  Roberto López-Blanco; Ana Rojo-Sebastián; Maria Henedina Torregrosa-Martínez; Alberto Blazquez
Journal:  BMJ Case Rep       Date:  2017-06-19

Review 4.  Multisystem manifestations of mitochondrial disorders.

Authors:  Stefano Di Donato
Journal:  J Neurol       Date:  2009-03-01       Impact factor: 4.849

5.  Expanded phenotypic spectrum of the m.8344A>G "MERRF" mutation: data from the German mitoNET registry.

Authors:  Judith Altmann; Boriana Büchner; Aleksandra Nadaj-Pakleza; Jochen Schäfer; Sandra Jackson; Diana Lehmann; Marcus Deschauer; Robert Kopajtich; Ronald Lautenschläger; Klaus A Kuhn; Kathrin Karle; Ludger Schöls; Jörg B Schulz; Joachim Weis; Holger Prokisch; Cornelia Kornblum; Kristl G Claeys; Thomas Klopstock
Journal:  J Neurol       Date:  2016-03-19       Impact factor: 4.849

Review 6.  Review of Dercum's disease and proposal of diagnostic criteria, diagnostic methods, classification and management.

Authors:  Emma Hansson; Henry Svensson; Håkan Brorson
Journal:  Orphanet J Rare Dis       Date:  2012-04-30       Impact factor: 4.123

7.  A case of Madelung's disease accompanied by Klinefelter's syndrome.

Authors:  Aysenur Ozderya; Sule Temizkan; Kadriye Aydin Tezcan; Feyza Yener Ozturk; Yuksel Altuntas
Journal:  Endocrinol Diabetes Metab Case Rep       Date:  2015-04-01

8.  Launois-bensaude syndrome: A benign symmetric lipomatosis without alcohol association.

Authors:  Hanan El Ouahabi; Sana Doubi; Kenza Lahlou; Saïd Boujraf; Farida Ajdi
Journal:  Ann Afr Med       Date:  2017 Jan-Mar

9.  Madelung disease: A case report.

Authors:  Hui Gao; Zhi-Ying Xin; Xin Yin; Yu Zhang; Qing-Long Jin; Xiao-Yu Wen
Journal:  Medicine (Baltimore)       Date:  2019-01       Impact factor: 1.817

10.  Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck.

Authors:  Ian J Wilson; Phillipa J Carling; Charlotte L Alston; Vasileios I Floros; Angela Pyle; Gavin Hudson; Suzanne C E H Sallevelt; Costanza Lamperti; Valerio Carelli; Laurence A Bindoff; David C Samuels; Passorn Wonnapinij; Massimo Zeviani; Robert W Taylor; Hubert J M Smeets; Rita Horvath; Patrick F Chinnery
Journal:  Hum Mol Genet       Date:  2016-01-05       Impact factor: 6.150
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