A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome

Marco Crimi; Sara Galbiati; Isabella Moroni; Andreina Bordoni; Maria Paola Perini; Eleonora Lamantea; Monica Sciacco; Massimo Zeviani; Ida Biunno; Maurizio Moggio; Guglielmo Scarlato; Giacomo Pietro Comi

A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome

Marco Crimi, Sara Galbiati, Isabella Moroni, Andreina Bordoni, Maria Paola Perini, Eleonora Lamantea, Monica Sciacco, Massimo Zeviani, Ida Biunno, Maurizio Moggio, Guglielmo Scarlato, Giacomo Pietro Comi

Research output: Contribution to journal › Article › peer-review

Abstract

A 13084 A->T missense mutation in the mitochondrial ND5 gene was identified in a 16-year-old boy affected with a progressive neurodegenerative disorder combining features of Leigh and MELAS (mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes) syndromes. Muscle biopsy analysis revealed partial complex I deficiency. The mutation presented a variable degree of heteroplasmy in the patient's tissues. This finding underlines the contribution of mtDNA-encoded complex I subunits in the etiology of complex I deficiency associated with encephalopathy.

Original language	English
Pages (from-to)	1857-1861
Number of pages	5
Journal	Neurology
Volume	60
Issue number	11
Publication status	Published - Jun 10 2003

ASJC Scopus subject areas

Neuroscience(all)

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A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome. / Crimi, Marco; Galbiati, Sara ; Moroni, Isabella; Bordoni, Andreina; Perini, Maria Paola; Lamantea, Eleonora ; Sciacco, Monica; Zeviani, Massimo; Biunno, Ida; Moggio, Maurizio; Scarlato, Guglielmo; Comi, Giacomo Pietro.

In: Neurology, Vol. 60, No. 11, 10.06.2003, p. 1857-1861.

Research output: Contribution to journal › Article › peer-review

Crimi, Marco ; Galbiati, Sara ; Moroni, Isabella ; Bordoni, Andreina ; Perini, Maria Paola ; Lamantea, Eleonora ; Sciacco, Monica ; Zeviani, Massimo ; Biunno, Ida ; Moggio, Maurizio ; Scarlato, Guglielmo ; Comi, Giacomo Pietro. / A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome. In: Neurology. 2003 ; Vol. 60, No. 11. pp. 1857-1861.

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abstract = "A 13084 A->T missense mutation in the mitochondrial ND5 gene was identified in a 16-year-old boy affected with a progressive neurodegenerative disorder combining features of Leigh and MELAS (mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes) syndromes. Muscle biopsy analysis revealed partial complex I deficiency. The mutation presented a variable degree of heteroplasmy in the patient's tissues. This finding underlines the contribution of mtDNA-encoded complex I subunits in the etiology of complex I deficiency associated with encephalopathy.",

author = "Marco Crimi and Sara Galbiati and Isabella Moroni and Andreina Bordoni and Perini, {Maria Paola} and Eleonora Lamantea and Monica Sciacco and Massimo Zeviani and Ida Biunno and Maurizio Moggio and Guglielmo Scarlato and Comi, {Giacomo Pietro}",

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AU - Crimi, Marco

AU - Galbiati, Sara

AU - Moroni, Isabella

AU - Bordoni, Andreina

AU - Perini, Maria Paola

AU - Lamantea, Eleonora

AU - Sciacco, Monica

AU - Zeviani, Massimo

AU - Biunno, Ida

AU - Moggio, Maurizio

AU - Scarlato, Guglielmo

AU - Comi, Giacomo Pietro

PY - 2003/6/10

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N2 - A 13084 A->T missense mutation in the mitochondrial ND5 gene was identified in a 16-year-old boy affected with a progressive neurodegenerative disorder combining features of Leigh and MELAS (mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes) syndromes. Muscle biopsy analysis revealed partial complex I deficiency. The mutation presented a variable degree of heteroplasmy in the patient's tissues. This finding underlines the contribution of mtDNA-encoded complex I subunits in the etiology of complex I deficiency associated with encephalopathy.

AB - A 13084 A->T missense mutation in the mitochondrial ND5 gene was identified in a 16-year-old boy affected with a progressive neurodegenerative disorder combining features of Leigh and MELAS (mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes) syndromes. Muscle biopsy analysis revealed partial complex I deficiency. The mutation presented a variable degree of heteroplasmy in the patient's tissues. This finding underlines the contribution of mtDNA-encoded complex I subunits in the etiology of complex I deficiency associated with encephalopathy.

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A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome

Abstract

ASJC Scopus subject areas

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