Widespread tissue distribution of a trnaleu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome

E. Ciafaloni; Enzo Ricci; Serenella Servidei; S. Shanske; Gabriella Silvestri; G. Manfredi; E. A. Schon; Salvatore Dimauro

doi:10.1212/wnl.41.10.1663

Widespread tissue distribution of a trnaleu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome

E. Ciafaloni
, Enzo Ricci
, Serenella Servidei
, S. Shanske
, Gabriella Silvestri
, G. Manfredi
, E. A. Schon
, Salvatore Dimauro

New York Presbyterian Hospital

Research output: Contribution to journal › Article

94 Citations (Scopus)

Abstract

We documented the presence of a newly described point mutation in the tRNA Leu(UUR) gene of mitochondrial DNA in five postmortem tissues from a patient with MELAS syndrome. The mutation was heteroplasmic, but the percentage of mutant genomes was similar (79 to 88%) in both clinically affected and unaffected tissues. © 1991 American Academy of Neurology.

Original language	English
Pages (from-to)	1663-1665
Number of pages	3
Journal	Neurology
Volume	41
DOIs	https://doi.org/10.1212/wnl.41.10.1663
Publication status	Published - 1991

Keywords

MELAS
mtDNA

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10.1212/wnl.41.10.1663

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title = "Widespread tissue distribution of a trnaleu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome",

abstract = "We documented the presence of a newly described point mutation in the tRNA Leu(UUR) gene of mitochondrial DNA in five postmortem tissues from a patient with MELAS syndrome. The mutation was heteroplasmic, but the percentage of mutant genomes was similar (79 to 88\%) in both clinically affected and unaffected tissues. {\textcopyright} 1991 American Academy of Neurology.",

keywords = "MELAS, mtDNA, MELAS, mtDNA",

author = "E. Ciafaloni and Enzo Ricci and Serenella Servidei and S. Shanske and Gabriella Silvestri and G. Manfredi and Schon, \{E. A.\} and Salvatore Dimauro",

year = "1991",

doi = "10.1212/wnl.41.10.1663",

language = "English",

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pages = "1663--1665",

journal = "Neurology",

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T1 - Widespread tissue distribution of a trnaleu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome

AU - Ciafaloni, E.

AU - Ricci, Enzo

AU - Servidei, Serenella

AU - Shanske, S.

AU - Silvestri, Gabriella

AU - Manfredi, G.

AU - Schon, E. A.

AU - Dimauro, Salvatore

PY - 1991

Y1 - 1991

N2 - We documented the presence of a newly described point mutation in the tRNA Leu(UUR) gene of mitochondrial DNA in five postmortem tissues from a patient with MELAS syndrome. The mutation was heteroplasmic, but the percentage of mutant genomes was similar (79 to 88%) in both clinically affected and unaffected tissues. © 1991 American Academy of Neurology.

AB - We documented the presence of a newly described point mutation in the tRNA Leu(UUR) gene of mitochondrial DNA in five postmortem tissues from a patient with MELAS syndrome. The mutation was heteroplasmic, but the percentage of mutant genomes was similar (79 to 88%) in both clinically affected and unaffected tissues. © 1991 American Academy of Neurology.

KW - MELAS

KW - mtDNA

KW - MELAS

KW - mtDNA

UR - http://hdl.handle.net/10807/166547

U2 - 10.1212/wnl.41.10.1663

DO - 10.1212/wnl.41.10.1663

M3 - Article

SN - 0028-3878

VL - 41

SP - 1663

EP - 1665

JO - Neurology

JF - Neurology

ER -

Widespread tissue distribution of a trnaleu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome

Abstract

Keywords

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