Isabelle Pénisson-Besnier

TL;DR: A marked inter‐ and intra‐familial variability in the clinical expression of LMNA mutations exists, ranging from patients expressing the full clinical picture of EDMD to those characterized only by cardiac involvement, which points toward a significant role of possible modifier genes in the course of this disease.

TL;DR: The combination of a pain and a progressive onset of the stroke, corroborated by ultrasonic findings, could have helped to recognise most of these types of dissections.

TL;DR: This work extensively characterized, at the clinical, cellular, and molecular levels, 49 patients with onset in the first 2 years of life to investigate genotype‐phenotype correlations.

TL;DR: A patient who wished to be treated for infertility by intracytoplasmic sperm injection was referred to the group for assessment, and southern blot analysis of spermatozoa and skeletal muscle revealed the presence of multiple mitochondrial DNA deletions.

TL;DR: Patients with the upstream Mex5 mutation showed a more severe phenotype with earlier onset implying a genotype-phenotype correlation, and three novel mutations were discovered in three families from Spain and two families from France.