Muscular dystrophy

Intronic SMCHD1 variants in FSHD: testing the potential for CRISPR-Cas9 genome editing
Remko Goossens, Marlinde L van den Boogaard, Richard J L F Lemmers, Judit Balog, Patrick J van der Vliet, Iris M Willemsen, Julie Schouten, Ignazio Maggio, Nienke van der Stoep, Rob C Hoeben, Stephen J Tapscott, Niels Geijsen, Manuel A F V Gonçalves, Sabrina Sacconi, Rabi Tawil, Silvère M van der Maarel

Journal of Medical Genetics Dec 2019, 56 (12) 828-837; DOI: 10.1136/jmedgenet-2019-106402
Targeted massively parallel sequencing and histological assessment of skeletal muscles for the molecular diagnosis of inherited muscle disorders
Atsuko Nishikawa, Satomi Mitsuhashi, Naomasa Miyata, Ichizo Nishino

Journal of Medical Genetics Feb 2017, 54 (2) 104-110; DOI: 10.1136/jmedgenet-2016-104073

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Muscular dystrophy