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March 23, 2009

FATAL CONGENITAL MYOPATHY AND GASTROINTESTINAL PSEUDO-OBSTRUCTION DUE TO POLG1 MUTATIONS

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C. Giordano, MD, PhD, H. Powell, BSc, M. Leopizzi, BSc, M. de Curtis, MD, C. Travaglini, BSc, M. Sebastiani, PhD, P. Gallo, MD, R. W. Taylor, PhD, and G. d’Amati, MD, PhDAuthors Info & Affiliations
March 24, 2009 issue
72 (12) 1103-1105
https://doi.org/10.1212/01.wnl.0000345002.47396.e1
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Neurology®
Volume 72 • Number 12 • March 24, 2009
Pages: 1103-1105
PubMed: 19307547

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© 2009.

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Published online: March 23, 2009
Published in issue: March 24, 2009

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C. Giordano, MD, PhD
From the Dipartimento di Medicina Sperimentale (C.G., M.L., C.T., M.S., P.G., G.d.) and Dipartimento di Ginecologia, Perinatologia e Puericultura (M.d.C.), Sapienza, Università di Roma, Rome, Italy; Northern Regional Genetics Service (H.P.), Institute of Human Genetics, Newcastle upon Tyne; and Mitochondrial Research Group (R.W.T.), Newcastle University, Newcastle upon Tyne, UK.
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H. Powell, BSc
From the Dipartimento di Medicina Sperimentale (C.G., M.L., C.T., M.S., P.G., G.d.) and Dipartimento di Ginecologia, Perinatologia e Puericultura (M.d.C.), Sapienza, Università di Roma, Rome, Italy; Northern Regional Genetics Service (H.P.), Institute of Human Genetics, Newcastle upon Tyne; and Mitochondrial Research Group (R.W.T.), Newcastle University, Newcastle upon Tyne, UK.
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M. Leopizzi, BSc
From the Dipartimento di Medicina Sperimentale (C.G., M.L., C.T., M.S., P.G., G.d.) and Dipartimento di Ginecologia, Perinatologia e Puericultura (M.d.C.), Sapienza, Università di Roma, Rome, Italy; Northern Regional Genetics Service (H.P.), Institute of Human Genetics, Newcastle upon Tyne; and Mitochondrial Research Group (R.W.T.), Newcastle University, Newcastle upon Tyne, UK.
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M. de Curtis, MD
From the Dipartimento di Medicina Sperimentale (C.G., M.L., C.T., M.S., P.G., G.d.) and Dipartimento di Ginecologia, Perinatologia e Puericultura (M.d.C.), Sapienza, Università di Roma, Rome, Italy; Northern Regional Genetics Service (H.P.), Institute of Human Genetics, Newcastle upon Tyne; and Mitochondrial Research Group (R.W.T.), Newcastle University, Newcastle upon Tyne, UK.
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C. Travaglini, BSc
From the Dipartimento di Medicina Sperimentale (C.G., M.L., C.T., M.S., P.G., G.d.) and Dipartimento di Ginecologia, Perinatologia e Puericultura (M.d.C.), Sapienza, Università di Roma, Rome, Italy; Northern Regional Genetics Service (H.P.), Institute of Human Genetics, Newcastle upon Tyne; and Mitochondrial Research Group (R.W.T.), Newcastle University, Newcastle upon Tyne, UK.
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M. Sebastiani, PhD
From the Dipartimento di Medicina Sperimentale (C.G., M.L., C.T., M.S., P.G., G.d.) and Dipartimento di Ginecologia, Perinatologia e Puericultura (M.d.C.), Sapienza, Università di Roma, Rome, Italy; Northern Regional Genetics Service (H.P.), Institute of Human Genetics, Newcastle upon Tyne; and Mitochondrial Research Group (R.W.T.), Newcastle University, Newcastle upon Tyne, UK.
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P. Gallo, MD
From the Dipartimento di Medicina Sperimentale (C.G., M.L., C.T., M.S., P.G., G.d.) and Dipartimento di Ginecologia, Perinatologia e Puericultura (M.d.C.), Sapienza, Università di Roma, Rome, Italy; Northern Regional Genetics Service (H.P.), Institute of Human Genetics, Newcastle upon Tyne; and Mitochondrial Research Group (R.W.T.), Newcastle University, Newcastle upon Tyne, UK.
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R. W. Taylor, PhD
From the Dipartimento di Medicina Sperimentale (C.G., M.L., C.T., M.S., P.G., G.d.) and Dipartimento di Ginecologia, Perinatologia e Puericultura (M.d.C.), Sapienza, Università di Roma, Rome, Italy; Northern Regional Genetics Service (H.P.), Institute of Human Genetics, Newcastle upon Tyne; and Mitochondrial Research Group (R.W.T.), Newcastle University, Newcastle upon Tyne, UK.
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G. d’Amati, MD, PhD
From the Dipartimento di Medicina Sperimentale (C.G., M.L., C.T., M.S., P.G., G.d.) and Dipartimento di Ginecologia, Perinatologia e Puericultura (M.d.C.), Sapienza, Università di Roma, Rome, Italy; Northern Regional Genetics Service (H.P.), Institute of Human Genetics, Newcastle upon Tyne; and Mitochondrial Research Group (R.W.T.), Newcastle University, Newcastle upon Tyne, UK.
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Notes

Address correspondence and reprint requests to Dr. Giulia d’Amati, Department of Experimental Pathology, Sect. of Pathology, Sapienza University, Policlinico Umberto I, Viale Regina Elena 324, 00161 Rome, Italy; [email protected]

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