Synaptic basal lamina-associated congenital myasthenic syndromes.
about
COOH-terminal collagen Q (COLQ) mutants causing human deficiency of endplate acetylcholinesterase impair the interaction of ColQ with proteins of the basal lamina.Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain.Neuromuscular synaptogenesis: coordinating partners with multiple functions.Endplate denervation correlates with Nogo-A muscle expression in amyotrophic lateral sclerosis patients.Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome.
P2860
Synaptic basal lamina-associated congenital myasthenic syndromes.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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Synaptic basal lamina-associated congenital myasthenic syndromes.
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label
Synaptic basal lamina-associated congenital myasthenic syndromes.
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prefLabel
Synaptic basal lamina-associated congenital myasthenic syndromes.
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P2093
P2860
P1476
Synaptic basal lamina-associated congenital myasthenic syndromes.
@en
P2093
Juan Arredondo
Michael J Ferns
Ricardo A Maselli
Robert L Wollmann
P2860
P356
10.1111/J.1749-6632.2012.06807.X
P407
P577
2012-12-01T00:00:00Z