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A3243G mitochondrial mutation associated with polymicrogyria
Author(s) -
Keng WT,
Pilz DT,
Minns B,
Patrick DR Fitz
Publication year - 2003
Publication title -
developmental medicine and child neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.658
H-Index - 143
eISSN - 1469-8749
pISSN - 0012-1622
DOI - 10.1111/j.1469-8749.2003.tb00874.x
Subject(s) - polymicrogyria , lactic acidosis , melas syndrome , mitochondrial myopathy , mitochondrial disease , epilepsy , mutation , non mendelian inheritance , encephalopathy , biology , medicine , mitochondrial dna , endocrinology , genetics , neuroscience , gene
The mitochondrial transfer ribonucleic acid for leucine is encoded by nucleotides 3230–3304. A‐to‐G transition at nucleotide 3243 can cause maternally transmitted diabetes mellitus‐deafness syndrome, and MELAS syndrome. MELAS syndrome is a rare disorder of mitochondrial energy production, and is an acronym for myopathy, encephalopathy, lactic acidosis, and stroke‐like episodes. Cortical malformations are heterogeneous and result from abnormal cell proliferation/apoptosis, migration, and/or differentiation of neuroepithelial cells. They are an important and relatively common cause of intractable epilepsy and neurodevelopmental disorders. The association between these A3243G mutations and cortical malformation has never before been reported. Here a 14‐year‐old female with A3243G mutation and polymicrogyria is described and possible aetiologies of this association are discussed.