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. 2004 Feb;41(2):125–129. doi: 10.1136/jmg.2003.013789
MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutation
K Szigeti
1, L Wong
1, C Perng
1, G Saifi
1, K Eldin
1, A Adesina
1, D Cass
1, M Hirano
1, J Lupski
1, F Scaglia
1
K Szigeti
1Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston 77030, USA.
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L Wong
1Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston 77030, USA.
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C Perng
1Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston 77030, USA.
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G Saifi
1Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston 77030, USA.
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K Eldin
1Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston 77030, USA.
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A Adesina
1Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston 77030, USA.
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D Cass
1Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston 77030, USA.
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M Hirano
1Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston 77030, USA.
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J Lupski
1Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston 77030, USA.
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F Scaglia
1Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston 77030, USA.
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1Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston 77030, USA.
PMCID: PMC1735672 PMID: 14757860