Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes

Author:

Gustafson Margaret A.,McCormick Elizabeth M.ORCID,Perera Lalith,Longley Matthew J.,Bai Renkui,Kong Jianping,Dulik Matthew,Shen LishuangORCID,Goldstein Amy C.,McCormack Shana E.,Laskin Benjamin L.,Leroy Bart P.,Ortiz-Gonzalez Xilma R.ORCID,Ellington Meredith G.,Copeland William C.,Falk Marni J.ORCID

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference42 articles.

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2. El-Hattab AW, Craigen WJ, Wong LJC, Scaglia F. Mitochondrial DNA Maintenance Defects Overview. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, et al., editors. GeneReviews((R)). Seattle (WA)1993.

3. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies;IJ Holt;Nature,1988

4. Goldstein A, Falk MJ. Mitochondrial DNA Deletion Syndromes. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, et al., editors. GeneReviews((R)). Seattle (WA)1993.

5. DNA polymerase gamma, the mitochondrial replicase;LS Kaguni;Annu Rev Biochem,2004

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