FDX1L encodes Fdx2, one of two 2Fe-2S ferredoxins involved in Fe-S cluster biogenesis. It is ubiquitously expressed but, up to now, the only reported phenotype associated with biallellic mutation of this gene was isolated metabolic myopathy (Spiegel et al, 2014). Herein we report the natural history and clinical findings of the c.431C>T/p.Pro144Leu homozygous variant in the FDX1L, identified in six patients belonging to two Brazilian families living in the same geographic region. Clinical evaluation, brain MRI, nerve conduction velocity, muscle biopsy and whole exome sequencing (WES) and Sanger sequencing were performed.

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