Tissue distribution and transmission of mitochondrial DNA deletions in mitochondrial myopathies

M. Zeviani; C. Gellera; M. Pannacci; G. Uziel; A. Prelle; S. Servidei; S. DiDonato

Tissue distribution and transmission of mitochondrial DNA deletions in mitochondrial myopathies

M. Zeviani, C. Gellera, M. Pannacci, G. Uziel, A. Prelle, S. Servidei, S. DiDonato

Fondazione IRCCS Istituto Neurologico "C. Besta"

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

Abstract

By using a combination of Southern blot hybridization analysis, polymerase-chain reaction amplification, and direct nucleotide sequencing, we studied deletions of mitochondrial DNA (mtDNA) in several nonfamilial patients with progressive external ophthalmoplegia and Kearns-Sayre syndrome, and in some of their direct relatives. Results suggest that the heteroplasmic mtDNA populations are already present at a very early stage of development, and that there is no direct transmission of mtDNA heteroplasmy by maternal inheritance.

Original language	English
Pages (from-to)	94-97
Number of pages	4
Journal	Annals of Neurology
Volume	28
Issue number	1
Publication status	Published - Jul 1990

ASJC Scopus subject areas

Neuroscience(all)

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title = "Tissue distribution and transmission of mitochondrial DNA deletions in mitochondrial myopathies",

abstract = "By using a combination of Southern blot hybridization analysis, polymerase-chain reaction amplification, and direct nucleotide sequencing, we studied deletions of mitochondrial DNA (mtDNA) in several nonfamilial patients with progressive external ophthalmoplegia and Kearns-Sayre syndrome, and in some of their direct relatives. Results suggest that the heteroplasmic mtDNA populations are already present at a very early stage of development, and that there is no direct transmission of mtDNA heteroplasmy by maternal inheritance.",

author = "M. Zeviani and C. Gellera and M. Pannacci and G. Uziel and A. Prelle and S. Servidei and S. DiDonato",

year = "1990",

month = jul,

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T1 - Tissue distribution and transmission of mitochondrial DNA deletions in mitochondrial myopathies

AU - Zeviani, M.

AU - Gellera, C.

AU - Pannacci, M.

AU - Uziel, G.

AU - Prelle, A.

AU - Servidei, S.

AU - DiDonato, S.

PY - 1990/7

Y1 - 1990/7

N2 - By using a combination of Southern blot hybridization analysis, polymerase-chain reaction amplification, and direct nucleotide sequencing, we studied deletions of mitochondrial DNA (mtDNA) in several nonfamilial patients with progressive external ophthalmoplegia and Kearns-Sayre syndrome, and in some of their direct relatives. Results suggest that the heteroplasmic mtDNA populations are already present at a very early stage of development, and that there is no direct transmission of mtDNA heteroplasmy by maternal inheritance.

AB - By using a combination of Southern blot hybridization analysis, polymerase-chain reaction amplification, and direct nucleotide sequencing, we studied deletions of mitochondrial DNA (mtDNA) in several nonfamilial patients with progressive external ophthalmoplegia and Kearns-Sayre syndrome, and in some of their direct relatives. Results suggest that the heteroplasmic mtDNA populations are already present at a very early stage of development, and that there is no direct transmission of mtDNA heteroplasmy by maternal inheritance.

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