MACF1 links Rapsyn to microtubule- and actin-binding proteins to maintain neuromuscular synapses. [electronic resource]
Producer: 20200410Description: 1686-1705 p. digitalISSN:- 1540-8140
- Actins -- metabolism
- Adult
- Animals
- Child, Preschool
- Female
- Humans
- Male
- Mice
- Mice, Inbred C57BL
- Mice, Knockout
- Microfilament Proteins -- genetics
- Microtubule-Associated Proteins -- genetics
- Microtubules -- metabolism
- Muscle Proteins -- genetics
- Mutation, Missense
- Myasthenic Syndromes, Congenital -- genetics
- Neuromuscular Junction -- physiology
- Pedigree
- Receptors, Cholinergic -- metabolism
- Synapses -- physiology
- Synaptic Transmission
- Exome Sequencing
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Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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