MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: New patients and novel mutations-Reference-Cited by-同舟云学术

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MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: New patients and novel mutations

Published:2010-03 Issue:3 Volume:99 Page:300-308
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

El-Hattab Ayman W.,Li Fang-Yuan,Schmitt Eric,Zhang Shulin,Craigen William J.,Wong Lee-Jun C.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference35 articles.

1. Mitochondrial diseases in man and mouse;Wallace;Science,1999

2. Clinical and molecular features of mitochondrial DNA depletion syndromes;Spinazzola;J. Inherit. Metab. Dis.,2009

3. MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion;Spinazzola;Nat. Genet.,2006

4. Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations;Spinazzola;Arch. Neurol.,2008

5. Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy;Saada;Nat. Genet.,2001

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