Detection rates and phenotypic spectrum of m.3243A>G in the MT-TL1 gene: A molecular diagnostic laboratory perspective
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Molecular Biology,Molecular Medicine
Reference43 articles.
1. Executive and visuospatial deficits in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome;Bosbach;Brain,2003
2. Sporadic MERRF/MELAS overlap syndrome associated with the 3243 tRNA(Leu(UUR)) mutation of mitochondrial DNA;Campos;Muscle Nerve,1996
3. Nonrandom tissue distribution of mutant mtDNA;Chinnery;Am. J. Med. Genet.,1999
4. MELAS: clinical features, biochemistry, and molecular genetics;Ciafaloni;Ann. Neurol.,1992
5. Practice guidelines for the molecular diagnosis of mitochondrial diseases 2008 copy right CMGS;CMGS (Clinical Molecular Genetics Society),2008
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