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

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)

Access to Document

Fingerprint Dive into the research topics of 'A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome'. Together they form a unique fingerprint.

Cite this

Crimi, M., Galbiati, S., Moroni, I., Bordoni, A., Perini, M. P., Lamantea, E., Sciacco, M., Zeviani, M., Biunno, I., Moggio, M., Scarlato, G., & Comi, G. P. (2003). A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome. Neurology, 60(11), 1857-1861.

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

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.

@article{297ca594c5f74313b494a3864eb13cc9,

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

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}",

year = "2003",

month = jun,

day = "10",

language = "English",

volume = "60",

pages = "1857--1861",

journal = "Neurology",

issn = "0028-3878",

publisher = "Lippincott Williams and Wilkins",

number = "11",

}

TY - JOUR

T1 - A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome

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

Y1 - 2003/6/10

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.

UR - http://www.scopus.com/inward/record.url?scp=10744223599&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=10744223599&partnerID=8YFLogxK

M3 - Article

C2 - 12796552

AN - SCOPUS:10744223599

VL - 60

SP - 1857

EP - 1861

JO - Neurology

JF - Neurology

SN - 0028-3878

IS - 11

ER -