Literature DB >> 15173241

Spontaneous recovery of a childhood onset mitochondrial myopathy caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene.

R Horváth, H Lochmüller, M Hoeltzenbein, J Müller-Höcker, B G Schoser, D Pongratz, M Jaksch.   

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Year:  2004        PMID： 15173241      PMCID： PMC1735806          DOI： 10.1136/jmg.2003.015024

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  2 in total

1.  A novel immunofluorescent assay to investigate oxidative phosphorylation deficiency in mitochondrial myopathy: understanding mechanisms and improving diagnosis.

Authors:  Mariana C Rocha; John P Grady; Anne Grünewald; Amy Vincent; Philip F Dobson; Robert W Taylor; Doug M Turnbull; Karolina A Rygiel
Journal:  Sci Rep       Date:  2015-10-15       Impact factor: 4.379

Review 2.  Molecular Genetics Overview of Primary Mitochondrial Myopathies.

Authors:  Ignazio Giuseppe Arena; Alessia Pugliese; Sara Volta; Antonio Toscano; Olimpia Musumeci
Journal:  J Clin Med       Date:  2022-01-26       Impact factor: 4.241
  2 in total

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