Literature DB >> 1650162

Mitochondrial dysfunction in multiple symmetrical lipomatosis.

S F Berkovic1, F Andermann, E A Shoubridge, S Carpenter, Y Robitaille, E Andermann, C Melmed, G Karpati.   

Abstract

Multiple symmetrical lipomatosis is a striking clinical finding associated with a variety of peripheral and central nervous system abnormalities. We describe 4 unrelated patients with evidence of mitochondrial dysfunction in skeletal muscle. Multiple symmetrical lipomatosis is an additional, albeit unusual, manifestation of the expanding clinical spectrum of mitochondrial diseases.

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Year:  1991        PMID： 1650162     DOI： 10.1002/ana.410290519

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


  14 in total

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Review 3.  Mitochondrial DNA mutations and pathogenesis.

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4.  Mitochondrial DNA mutations in multiple symmetric lipomatosis.

Authors:  T Klopstock; M Naumann; P Seibel; B Shalke; K Reiners; H Reichmann
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Review 5.  Skin Conditions and Movement Disorders: Hiding in Plain Sight.

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6.  Tissue distribution and disease manifestations of the tRNA(Lys) A-->G(8344) mitochondrial DNA mutation in a case of myoclonus epilepsy and ragged red fibres.

Authors:  A Oldfors; E Holme; M Tulinius; N G Larsson
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7.  Oral cavity lipoma: a case report.

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Review 8.  Launois-Bensaude Syndrome: an unusual localization of obesity disease.

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9.  Multiple symmetric lipomas with high levels of mtDNA with the tRNA(Lys) A-->G(8344) mutation as the only manifestation of disease in a carrier of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome.

Authors:  E Holme; N G Larsson; A Oldfors; M Tulinius; P Sahlin; G Stenman
Journal:  Am J Hum Genet       Date:  1993-03       Impact factor: 11.025

10.  Lipomas of the hand: a review and 13 patient case series.

Authors:  Menaka M Nadar; Carlo R Bartoli; Morton L Kasdan
Journal:  Eplasty       Date:  2010-10-25
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