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- Ghaderi Berntsson, Shala, 1964-, et al.
(författare)
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Case report : a novel deep intronic splice-altering variant in DMD as a cause of Becker muscular dystrophy
- 2023
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Ingår i: Frontiers in Genetics. - : Frontiers Media S.A.. - 1664-8021. ; 14
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Tidskriftsartikel (refereegranskat)abstract
- We present the case of a male patient who was ultimately diagnosed with Becker muscular dystrophy (BMD; MIM# 300376) after the onset of muscle weakness in his teens progressively led to significant walking difficulties in his twenties. A genetic diagnosis was pursued but initial investigation revealed no aberrations in the dystrophin gene (DMD), although immunohistochemistry and Western blot analysis suggested the diagnosis of dystrophinopathy. Eventually, after more than 10 years, an RNA analysis captured abnormal splicing where 154 nucleotides from intron 43 were inserted between exon 43 and 44 resulting in a frameshift and a premature stop codon. Normal splicing of the DMD gene was also observed. Additionally, a novel variant c.6291–13537A>G in DMD was confirmed in the genomic DNA of the patient. The predicted function of the variant aligns with the mRNA results. To conclude, we here demonstrate that mRNA analysis can guide the diagnosis of non-coding genetic variants in DMD.
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- Johansson, L., et al.
(författare)
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Emotional Stroop via Internet among individuals with eating disorders : Personality and social sciences
- 2008
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Ingår i: Scandinavian Journal of Psychology. - : Wiley. - 0036-5564 .- 1467-9450. ; 49:1, s. 69-76
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Tidskriftsartikel (refereegranskat)abstract
- The present study investigated whether Stroop interference in eating disordered individuals for food - and body-related words, as repeatedly found previously using standard emotional Stroop tasks, would also be demonstrated when using an Internet based emotional Stroop task. Participants were anorexic women (n = 13), bulimic women (n = 20), non-clinically eating disordered women nevertheless over-concerned about eating and body appearance (n = 27) and normal control women (n = 31). Bulimic individuals showed Stroop interference for body-related words whereas anorexic individuals showed Stroop interference for food-related words. The present results thus suggest that administration of the emotional Stroop task is possible via the Internet. Furthermore, it is possible that the time consuming response delivery, relative to previous studies, could lead to Stroop interference only for the most emotionally significant information, in turn, differentiating between the core concerns of anorexic and bulimic individuals. © 2008 The Authors. Journal compilation © 2008 The Scandinavian Psychological Associations.
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