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List of works by Edoardo Malfatti

A novel heteroplasmic tRNA(Ser(UCN)) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss.

scientific article published on 5 July 2007

A novel mutation in the mitochondrial tRNA(Pro) gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency

scientific article

A second MNGIE patient without typical mitochondrial skeletal muscle involvement.

scientific article published on 16 March 2010

Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.

scientific article

Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment

scientific article published on 28 October 2019

Progressive mitochondrial myopathy, deafness, and sporadic seizures associated with a novel mutation in the mitochondrial tRNASer(AGY) gene.

scientific article

Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders

scientific article published on September 2013

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