Literature DB >> 14569122

A tRNA(Ala) mutation causing mitochondrial myopathy clinically resembling myotonic dystrophy.

R Horváth, H Lochmüller, C Scharfe, B H Do, P J Oefner, J Müller-Höcker, B G Schoser, D Pongratz, D P Auer, M Jaksch.   

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Year:  2003        PMID： 14569122      PMCID： PMC1735288          DOI： 10.1136/jmg.40.10.752

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


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  3 in total

Review 1.  The potential of mitochondrial genome engineering.

Authors:  Pedro Silva-Pinheiro; Michal Minczuk
Journal:  Nat Rev Genet       Date:  2021-12-02       Impact factor: 53.242

2.  Frequency of dystrophic muscle abnormalities in chronic progressive external ophthalmoplegia: analysis of 86 patients.

Authors:  B H Kiyomoto; C H Tengan; C K Costa; A S Oliveira; B Schmidt; A A Gabbai
Journal:  J Neurol Neurosurg Psychiatry       Date:  2006-04       Impact factor: 10.154

3.  Diagnostic modelling and therapeutic monitoring of immune-mediated necrotizing myopathy: role of electrical myotonia.

Authors:  James D Triplett; Shahar Shelly; Guy Livne; Margherita Milone; Charles D Kassardjian; Teerin Liewluck; Cecilia Kelly; Elie Naddaf; Ruple S Laughlin; Christopher J Lamb; Devon Rubin; Elliot L Dimberg; Divanshu Dubey; John R Mills; Jay Mandrekar; Christopher J Klein
Journal:  Brain Commun       Date:  2020-12-13
  3 in total

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