title: Heterogeneous phenotypic manifestations of maternally inherited deafness associated with the mitochondrial A3243G mutation. Case report.
abstract: The A3243G mutation is one of the most frequent mutations of mitochondrial DNA. The phenotypic expression of the A3243G mutation is variable and causes a wide range of syndromic and non-syndromic clinical disorders. Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome is the most frequent syndromic manifestation of the A3243G mutation. Stroke-like episodes seem to be the dominant feature of MELAS. We have investigated the case of a family with A3243G mutation, in which a dominant symptom in three generations was the maternally inherited hearing loss with absence of stroke-like episodes. Besides deafness, we found also other clinical features such as myopathy, neuropathy, migraine, ataxia, short stature, diabetes mellitus, and cardiomyopathy.
authors.affiliation: Department of Clinical Neurology, Clinical Hospital of H. Święcicki by University of Medical Sciences, Poznań, Poland.
authors.forename: Magdalena
authors.initials: M
authors.lastname: Hoptasz
authors.affiliation: Department of Clinical Neurology, Clinical Hospital of H. Święcicki by University of Medical Sciences, Poznań, Poland; Department of Neurochemistry and Neuropathology, University of Medical Sciences, Poznań, Poland. Electronic address: adamszczucinski@poczta.onet.pl.
authors.forename: Adam
authors.initials: A
authors.lastname: Szczuciński
authors.affiliation: Department of Clinical Neurology, Clinical Hospital of H. Święcicki by University of Medical Sciences, Poznań, Poland; Department of Clinical Neuroimmunology, Chair of Neurology, University of Medical Sciences, Poznań, Poland; Neuroimmunological Unit, Institute of Experimental and Clinical Medicine, Polish Academy of Sciences, Poznań, Poland.
authors.forename: Jacek
authors.initials: J
authors.lastname: Losy
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics; D004272:DNA, Mitochondrial / Q000235:genetics*; D003638:Deafness / Q000235:genetics*; D005260:Female; D006801:Humans; D017241:MELAS Syndrome / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D010641:Phenotype
chemical_list: D004272:DNA, Mitochondrial
keywords: A3243G mutation; Maternally inherited deafness; Mitochondrial disorder; Mitochondrial encephalomyopathy, lactic acidosis and strokelike episodes