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Dominov et al., 2019 - Google Patents

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Dominov et al., 2019

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Document ID
11273537541423543837
Author
Dominov J
Uyan O
McKenna-Yasek D
Nallamilli B
Kergourlay V
Bartoli M
Levy N
Hudson J
Evangelista T
Lochmuller H
Krahn M
Rufibach L
Hegde M
Brown R
Publication year
Publication venue
Neurology

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Snippet

Objective: Dysferlin is a large transmembrane protein that functions in critical processes of membrane repair and vesicle fusion. Dysferlin-deficiency due to mutations in the dysferlin gene leads to muscular dystrophy (Miyoshi myopathy (MM), limb girdle muscular dystrophy …
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