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Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C mutation.

Abstract：

:Leigh syndrome (LS) is an incurable, nearly always fatal, neurodegenerative, pediatric disorder that results from respiratory chain failure. The most common mitochondrial DNA (mtDNA) mutations that result in LS are m.8993T→C/G and m.9176T→C/G, which were previously found in several patients with early-onset Leigh syndrome. Here, we describe clinical and molecular features of a novel pedigree, where LS developed in two siblings. The proband was a young woman with an unusual adult-onset LS. She harbored a homoplasmic m.9176T→C mutation, based on analysis of a muscle biopsy. In contrast, the brother died at a young age. This novel case report and literature review highlights the variability of phenotypic expression of the m.9176T→C mutation.

journal_name

Biochem Biophys Res Commun

journal_title

Biochemical and biophysical research communications

authors

Ronchi D,Bordoni A,Cosi A,Rizzuti M,Fassone E,Di Fonzo A,Servida M,Sciacco M,Collotta M,Ronzoni M,Lucchini V,Mattioli M,Moggio M,Bresolin N,Corti S,Comi GP

doi

10.1016/j.bbrc.2011.07.076

subject

Has Abstract

pub_date

2011-08-26 00:00:00

pages

245-8

issue

2

eissn

0006-291X

issn

1090-2104

pii

S0006-291X(11)01311-8

journal_volume

412

pub_type

杂志文章

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