Mutation m.15923A>G in the MT-TT gene causes mild myopathy – case report of an adult-onset phenotype

Mutation m.15923A>G in the MT-TT gene causes mild myopathy – case report of an adult-onset phenotype

Abstract Background Only five patients have previously been reported to harbor mutations in the MT-TT gene encoding mitochondrial tRNA threonine. The m.15923A > G mutation has been found in three severely affected children. One of these patients died within days after birth and two had a phenotyp...

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Bibliographic Details
Main Authors: Mikko Kärppä, Laura Kytövuori, Markku Saari, Kari Majamaa
Format: Article
Language:English
Published: BMC 2018-09-01
Series:BMC Neurology
Subjects:
Case report
Mitochondrial diseases
Mitochondrial tRNAThr
Neuromuscular disorders
Single-fibre analysis
Online Access:http://link.springer.com/article/10.1186/s12883-018-1159-4

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http://link.springer.com/article/10.1186/s12883-018-1159-4

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