Literature DB >> 10801057

Multiple mtDNA deletions: clinical and molecular correlations.

F M Santorelli1, G De Joanna, C Casali, A Tessa, G Siciliano, G A Amabile, F Pierelli, L Vilarinho, L Santoro.   

Abstract

We studied six Italian patients harbouring multiple mitochondrial DNA (mtDNA) deletions in order to correlate clinical and molecular features. Earlier age at onset (17 vs 36 years), fewer ragged-red fibres (none vs 35%), and lower proportions of deleted mtDNAs (9 vs 33%) were found in one patient with autosomal recessive inheritance as compared to five with dominant transmission. Our findings add to the features associated with multiple deletions of mtDNA.

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Year:  2000        PMID： 10801057     DOI： 10.1023/a:1005617916260

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  9 in total

1.  Multiple mitochondrial DNA deletions in sporadic inclusion body myositis: a study of 56 patients.

Authors:  F M Santorelli; M Sciacco; K Tanji; S Shanske; T H Vu; V Golzi; R C Griggs; J R Mendell; A P Hays; T E Bertorini; A Pestronk; E Bonilla; S DiMauro
Journal:  Ann Neurol       Date:  1996-06       Impact factor: 10.422

2.  Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy.

Authors:  S Bohlega; K Tanji; F M Santorelli; M Hirano; A al-Jishi; S DiMauro
Journal:  Neurology       Date:  1996-05       Impact factor: 9.910

3.  Increased prevalence of mitochondrial DNA deletions in skeletal muscle of older individuals with impaired glucose tolerance: possible marker of glycemic stress.

Authors:  P Liang; V Hughes; N K Fukagawa
Journal:  Diabetes       Date:  1997-05       Impact factor: 9.461

4.  Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogeneses.

Authors:  R Carrozzo; M Hirano; B Fromenty; C Casali; F M Santorelli; E Bonilla; S DiMauro; E A Schon; A F Miranda
Journal:  Neurology       Date:  1998-01       Impact factor: 9.910

Review 5.  Disorders of nuclear-mitochondrial intergenomic signalling.

Authors:  M Zeviani; V Petruzzella; R Carrozzo
Journal:  J Bioenerg Biomembr       Date:  1997-04       Impact factor: 2.945

6.  Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder.

Authors:  M Hirano; G Silvestri; D M Blake; A Lombes; C Minetti; E Bonilla; A P Hays; R E Lovelace; I Butler; T E Bertorini
Journal:  Neurology       Date:  1994-04       Impact factor: 9.910

7.  Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder.

Authors:  I Nishino; A Spinazzola; M Hirano
Journal:  Science       Date:  1999-01-29       Impact factor: 47.728

8.  Inherited idiopathic dilated cardiomyopathy with multiple deletions of mitochondrial DNA.

Authors:  A Suomalainen; A Paetau; H Leinonen; A Majander; L Peltonen; H Somer
Journal:  Lancet       Date:  1992-11-28       Impact factor: 79.321

9.  Multiple mitochondrial DNA deletions in a patient with mitochondrial myopathy and cardiomyopathy but no ophthalmoplegia.

Authors:  Y Takei; S Ikeda; N Yanagisawa; W Takahashi; M Sekiguchi; T Hayashi
Journal:  Muscle Nerve       Date:  1995-11       Impact factor: 3.217
  9 in total
  1 in total

1.  A new POLG1 mutation with peo and severe axonal and demyelinating sensory-motor neuropathy.

Authors:  L Santoro; F Manganelli; R Lanzillo; A Tessa; F Barbieri; F Pierelli; G Di Giacinto; V Nigro; F M Santorelli
Journal:  J Neurol       Date:  2006-05-24       Impact factor: 4.849
  1 in total

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