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Abstract

In the early 90s, in the wake of the discovery of the dystrophin gene, many international research groups embarked on a lengthy and tedious gene hunt for many remaining neuromuscular diseases. The Middle East and the MENA region as a whole soon appeared as goldmines in that respect. The high degree of consanguinity and the presence of multiplex families with rare disorders were ideal conditions to elucidate hereditary diseases at the molecular level, especially the recessive ones (limb girdle muscular dystrophies, congenital muscular dystrophies, congenital myopathies and congenital myasthenic syndromes). Genethon and the Institut de Myologie, two French institutions funded by the French Muscular Dystrophy Association (AFM-Telethon) played at the time a pivotal role in establishing strong partnerships with local partners (in Morocco, Turkey, Lebanon, Iran, Kuwait and Oman; notably). These collaborations took several forms: on-site visits with clinics and bedside teaching, joint research projects and attendance to the Summer School of Myology in Paris. The harvest and the return on investment turned out to be quite impressive shedding more light on this part of the world where awareness and knowledge about neuromuscular disorders had been scarce and limited for quite some time. Over the years, our objectives slowly switched from molecular diagnosis to daily management of patients and nowadays to innovative therapies. What is currently happening in Spinal Muscular Atrophy and Duchenne Muscular Dystrophy are perfect examples of this change in paradigm.

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/content/papers/10.5339/qproc.2020.NMD.6
2020-09-15
2020-11-30
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http://instance.metastore.ingenta.com/content/papers/10.5339/qproc.2020.NMD.6
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