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See Latest ArticlesPhenotypic Spectrum of MFN2 Mutations in the Spanish Population
Journal of Medical Genetics, 11/10/09
Casasnovas C et al. – The Arg468His mutation was the most prevalent (6/14 families) and the study confirmed that it is pathological, presenting as a neuropathy in a mild to moderate degree. This study also demonstrated the value of MFN2 studies in cases of congenital axonal neuropathy, especially in cases of dominant inheritance, severe clinical symptoms, or additional symptoms such as optic atrophy.
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