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Familial Clustering Strongly Suggests that the Phenotypic Variation of the 8344 A>G Lys Mitochondrial tRNA Mutation is Encoded in cis

Familial Clustering Strongly Suggests that the Phenotypic Variation of the 8344 A>G Lys... The maternally inherited 8344 A>G mutation in the mitochondrial Lys tRNA is classically associated with the myoclonic epilepsy, ragged‐red muscle fiber (MERRF) syndrome. Multiple lipomatosis (Madelung's disease) is occasionally described. Here we report a large kindred with a statistically significant clustering of very unusual clinical manifestations. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Annals of Human Genetics Wiley

Familial Clustering Strongly Suggests that the Phenotypic Variation of the 8344 A>G Lys Mitochondrial tRNA Mutation is Encoded in cis

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References (14)

Publisher
Wiley
Copyright
Copyright © 2012 Wiley Subscription Services
ISSN
0003-4800
eISSN
1469-1809
DOI
10.1111/j.1469-1809.2012.00711.x
pmid
22681518
Publisher site
See Article on Publisher Site

Abstract

The maternally inherited 8344 A>G mutation in the mitochondrial Lys tRNA is classically associated with the myoclonic epilepsy, ragged‐red muscle fiber (MERRF) syndrome. Multiple lipomatosis (Madelung's disease) is occasionally described. Here we report a large kindred with a statistically significant clustering of very unusual clinical manifestations.

Journal

Annals of Human GeneticsWiley

Published: Jan 1, 2012

Keywords: ; ; ; ; ;

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