Monosomy 18p is a risk factor for facioscapulohumeral dystrophy

Autor: Julian Contet, Marjolein Kriek, Stephen J. Tapscott, Veronique Manel, Colleen M. Donlin-Smith, Nicolas Capet, Léonard Féasson, Anita van den Heuvel, Judit Balog, Remko Goossens, Sabrina Sacconi, C. Cambieri, Jannine D. Cody, Richard J.L.F. Lemmers, Silvère M. van der Maarel, Patricia Heard, Patrick J. van der Vliet, Claudia A. L. Ruivenkamp, Kirsten R. Straasheijm, Rabi Tawil

Publikováno v: Journal of Medical Genetics
Journal of Medical Genetics, 2018, 55 (7), pp.469--478. ⟨10.1136/jmedgenet-2017-105153⟩
Journal of Medical Genetics, 55(7), 469-478

Background18p deletion syndrome is a rare disorder caused by partial or full monosomy of the short arm of chromosome 18. Clinical symptoms caused by 18p hemizygosity include cognitive impairment, mild facial dysmorphism, strabismus and ptosis. Among

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5206f853131d5981076eb3a7d4f52d6e
https://hal-univ-lyon1.archives-ouvertes.fr/hal-02465636

Facioscapulohumeral dystrophy weakened sarcomeric contractility is mimicked in induced pluripotent stem cells‐derived innervated muscle fibres

Autor: Camille Laberthonnière, Elva‐Maria Novoa‐del‐Toro, Mégane Delourme, Raphaël Chevalier, Natacha Broucqsault, Kilian Mazaleyrat, Nathalie Streichenberger, Véronique Manel, Rafaëlle Bernard, Emmanuelle Salort Campana, Shahram Attarian, Karine Nguyen, Jérôme D. Robin, Anais Baudot, Frédérique Magdinier

Publikováno v: Journal of Cachexia, Sarcopenia and Muscle, Vol 13, Iss 1, Pp 621-635 (2022)

Abstract Background Facioscapulohumeral dystrophy (FSHD) is a late‐onset autosomal dominant form of muscular dystrophy involving specific groups of muscles with variable weakness that precedes inflammatory response, fat infiltration, and muscle atr

Externí odkaz: https://doaj.org/article/8f932ee1e4384c53a16531a5f4c02563