<i>RRM2B</i> mutations are frequent in familial PEO with multiple mtDNA deletions

<i>RRM2B</i> mutations are frequent in familial PEO with multiple mtDNA deletions

Disorders of mitochondrial DNA (mtDNA) maintenance leading to multiple mtDNA deletions are a significant cause of inherited neurologic disease in adults, but the underlying nuclear gene defects remain elusive in many patients.Following the recent description of a truncating mutation in the RRM2B gen...

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Autors principals: Carl Fratter, Pravrutha Raman, Charlotte L. Alston, Emma L. Blakely, Kelly Jean Thomas Craig, Conrad Smith, Julie Evans, A Seller, Birgit Czermin, Michael G. Hanna, Joanna Poulton, Charlotte Brierley, T.G. Staunton, Peter D. Turnpenny, Andrew M. Schaefer, Patrick F. Chinnery, Rita Horváth, Douglass M. Turnbull, Gráinne S. Gorman, Rachael W. Taylor
Format: Artigo
Idioma:anglès
Publicat: 2011
Accés en línia:https://doi.org/10.1212/wnl.0b013e31821e558b
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https://doi.org/10.1212/wnl.0b013e31821e558b

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