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Keywords: LETM1
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Journal Articles
Journal:
Disease Models & Mechanisms
Dis Model Mech (2014) 7 (5): 535–545.
Published: 1 May 2014
..., intellectual disability, growth restriction, motor delay and hypotonia are major co-morbidities in WHS. Haploinsufficiency of LETM1 , which encodes a mitochondrial inner-membrane protein functioning in ion transport, has been proposed as an underlying pathomechanism, principally for seizures but also for other...
Includes: Supplementary data