Article
The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2017
Hikmat Omar, Tzoulis Charalampos, Chong Wui K, Chentouf Latifa, Klingenberg Claus, Fratter Carl, Carr Lucinda J, Prabhakar Prab, Kumaraguru Nandhini, Gissen Paul, Cross J Helen, Jacques Thomas S, Taanman Jan-Willem, Bindoff Laurence A, Rahman Shamima
Abstract excerpt
PurposeMutations in POLG, the most common single-gene cause of inherited mitochondrial disease, are diagnostically challenging owing to clinical heterogeneity and overlap between syndromes. We aimed to improve the clinical recognition of POLG-related disorders in the pediatric population.MethodsWe performed a multinational, phenotype: genotype study using patients from three centers, two Norwegian and one from...
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