Functional protein networks unifying limb girdle muscular dystrophy
Morrée, A. de
Citation
Morrée, A. de. (2011, January 12). Functional protein networks unifying limb girdle muscular dystrophy. Retrieved from https://hdl.handle.net/1887/16329
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Functional Protein Networks Unifying
Antoine de Morrée
Functional Protein Networks Unifying
Limb Girdle Muscular Dystrophy
Op woensdag 12 januari 2011 om 16.15 in het Groot
Auditorium van het Academiegebouw, Rapenburg 73 in Leiden De verdediging wordt om 15.00
voorafgegaan door een openbaar college zonder vakjargon (lekenpraatje) Na afloop van de verdediging is er een receptie in Grand Café
De Koets, Doelensteeg 8
Limb Girdle Muscular Dystrophy
Antoine de Morrée - Functional Protein Networks Unif ying Limb Girdle Muscular D ystrophy
Het academiegebouw ligt op loopafstand van het station. Parkeergelegenheid is
echter beperkt
Limb Girdle Muscular Dystrophy (LGMD) is a rare progressive heterogeneous disorder that can be caused by mutations in at least 21 different genes.
These genes are often widely expressed and encode proteins with highly differing functions. And yet mutations in all of them give rise to a similar clinical presentation: adult onset muscle weakness, with muscles of the pelvic and shoulder girdle as predominantly affected muscle groups.
This thesis explores a potential molecular mechanism that unifies the different genetic defects, which individually can cause a Limb Girdle Muscular Dystrophy, with a focus on LGMD2A and 2B.
