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Risk of developing a mitochondrial DNA deletion disorder

✍ Scribed by Patrick F Chinnery; Salvatore DiMauro; Sara Shanske; Eric A Schon; Massimo Zeviani; Caterina Mariotti; Fanco Carrara; Anne Lombes; Pascal Laforet; Heléne Ogier; Michaela Jaksch; Hanns Lochmüller; Rita Horvath; Marcus Deschauer; David R Thorburn; Laurence A Bindoff; Joanna Poulton; Robert W Taylor; John NS Matthews; Douglass M Turnbull

Book ID
117286824
Publisher
The Lancet
Year
2004
Tongue
English
Weight
92 KB
Volume
364
Category
Article
ISSN
0140-6736

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Clinical Heterogeneity in Mitochondrial
Clinical Heterogeneity in Mitochondrial DNA Deletion Disorders: A Diagnostic Challenge of Pearson Syndrome
✍ Lacbawan, Felicitas ;Tifft, Cynthia J. ;Luban, Naomi L.C. ;Schmandt, Susanne M. 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 119 KB 👁 2 views

The clinical presentation of mitochondrial DNA (mtDNA) disorders is quite diverse. Very often, the initial symptoms do not fit a specific disease, and diagnosis is difficult to make. We describe a patient who presented with macrocytic anemia. Extensive biochemical and clinical work-up failed to prov