Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease.
Omar HikmatPirjo IsohanniNandaki KeshavanMatteo P FerlaElisa FassoneMary-Alice AbbottMarcello BellusciNiklas DarinDavid DimmockDaniele GhezziHenry HouldenFederica InvernizziNazreen B Kamarus JamanManju A KurianEva MoravaKarin NaessJuan Darío Ortigoza-EscobarSumit ParikhAlessandra PennisiGiulia BarciaKarin B TylleskärDamien BrackmanSaskia B WortmannJenny C TaylorLaurence A BindoffVineta FellmanShamima RahmanPublished in: Annals of clinical and translational neurology (2021)
The phenotypic spectrum of BCS1L-related disease comprises a continuum of clinical features rather than a set of separate syndromic clinical identities. Age of onset defines BCS1L-related disease clinically and early presentation is associated with poor prognosis. Genotype correlates with phenotype in the presence of the c.232A>G (p.Ser78Gly) variant.