Lindsay A Wilson, William L Macken, Luke D Perry, Christopher J Record, Katherine R Schon, Rodrigo S S Frezatti, Sharika Raga, Kireshnee Naidu, Özlem Yayıcı Köken, Ipek Polat, Musambo M Kapapa, Natalia Dominik, Stephanie Efthymiou, Heba Morsy, Melissa Nel, Mahmoud R Fassad, Fei Gao, Krutik Patel, Maryke Schoonen, Michelle Bisschoff, Armand Vorster, Hallgeir Jonvik, Ronel Human, Elsa Lubbe, Malebo Nonyane, Seena Vengalil, Saraswati Nashi, Kosha Srivastava, Richard J L F Lemmers, Alisha Reyaz, Rinkle Mishra, Ana Töpf, Christina I Trainor, Elizabeth C Steyn, Amokelani C Mahungu, Patrick J van der Vliet, Ahmet Cevdet Ceylan, A Semra Hiz, Büşranur Çavdarlı, C Nur Semerci Gündüz, Gülay Güleç Ceylan, Madhu Nagappa, Karthik B Tallapaka, Periyasamy Govindaraj, Silvère M van der Maarel, Gayathri Narayanappa, Bevinahalli N Nandeesh, Somwe Wa Somwe, David R Bearden, Michelle P Kvalsund, Gita M Ramdharry, Yavuz Oktay, Uluç Yiş, Haluk Topaloğlu, Anna Sarkozy, Enrico Bugiardini, Franclo Henning, Jo M Wilmshurst, Jeannine M Heckmann, Robert McFarland, Robert W Taylor, Izelle Smuts, Francois H van der Westhuizen, Claudia Ferreira da Rosa Sobreira, Pedro J Tomaselli, Wilson Marques, Rohit Bhatia, Ashwin Dalal, M V Padma Srivastava, Sireesha Yareeda, Atchayaram Nalini, Venugopalan Y Vishnu, Kumarasamy Thangaraj, Volker Straub, Rita Horvath, Patrick F Chinnery, Robert D S Pitceathly, Francesco Muntoni, Henry Houlden, Jana Vandrovcova, Mary M Reilly, Michael G Hanna
Neuromuscular diseases (NMDs) affect ∼15 million people globally. In high income settings DNA-based diagnosis has transformed care pathways and led to gene-specific therapies. However, most affected families are in low-middle income countries (LMICs) with limited access to DNA-based diagnosis. Most (86%) published genetic data is derived from European ancestry. This marked genetic data inequality hampers understanding of genetic diversity and hinders accurate genetic diagnosis in all income settings...
July 30, 2023: Brain