Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying MME mutations.
Vincenzo LupoMarina FrasquetAna Sánchez-MonteagudoAna Lara Pelayo-NegroTania García-SobrinoMaría José SedanoJulio PardoMercedes MisiegoJorge García-GarcíaMaría Jesús SobridoMaría Dolores Martínez-RubioMaría José ChumillasJuan Jesús VílchezJuan Francisco Vázquez-CostaCarmen EspinósTeresa SevillaPublished in: Journal of medical genetics (2018)
MME mutations that segregate in an autosomal recessive pattern are associated with a late-onset CMT2 phenotype, yet we could not demonstrate that MME variants in heterozygosis cause neuropathy. Our data highlight the importance of establishing an accurate genetic diagnosis in patients carrying MME mutations, especially with a view to genetic counselling.
Keyphrases
- late onset
- copy number
- end stage renal disease
- early onset
- ejection fraction
- genome wide
- newly diagnosed
- chronic kidney disease
- mitochondrial dna
- prognostic factors
- gene expression
- electronic health record
- patient reported outcomes
- hepatitis c virus
- smoking cessation
- mass spectrometry
- data analysis
- hiv infected
- antiretroviral therapy
- muscular dystrophy