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Mitochondrial neurogastrointestinal encephalomyopathy syndrome maps to chromosome 22q13.32-qter.

Abstract：

:Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome is a rare, multisystem disorder characterized clinically by ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility, leukoencephalopathy, thin body habitus, and myopathy. Laboratory studies reveal defects of oxidative-phosphorylation and multiple mtDNA deletions frequently in skeletal muscle. We studied four ethnically distinct families affected with this apparently autosomal recessive disorder. Probands from each family were shown, by Southern blot, to have multiple mtDNA deletions in skeletal muscle. We mapped the MNGIE locus to 22q13.32-qter, distal to D22S1161, with a maximum two-point LOD score of 6.80 at locus D22S526. Cosegregation of MNGIE with a single chromosomal region in families with diverse ethnic backgrounds suggests that we have mapped an important locus for this disorder. We found no evidence to implicate three candidate genes in this region, by using direct sequence analysis for DNA helicase II and by assaying enzyme activities for arylsulfatase A and carnitine palmitoyltransferase.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Hirano M,Garcia-de-Yebenes J,Jones AC,Nishino I,DiMauro S,Carlo JR,Bender AN,Hahn AF,Salberg LM,Weeks DE,Nygaard TG

doi

10.1086/301979

subject

Has Abstract

pub_date

1998-08-01 00:00:00

pages

526-33

issue

2

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(07)61496-7

journal_volume

63

pub_type

杂志文章

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