Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome.
about
Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndromeVesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome.Congenital myasthenic syndrome: phenotypic variability in patients harbouring p.T159P mutation in CHRNE geneNovel synaptobrevin-1 mutation causes fatal congenital myasthenic syndrome.Congenital Myasthenic Syndromes or Inherited Disorders of Neuromuscular Transmission: Recent Discoveries and Open Questions.Vesicular acetylcholine transporter (VAChT) over-expression induces major modifications of striatal cholinergic interneuron morphology and function.Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients.Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy.How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome.The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes.
P2860
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P2860
Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
Variants in SLC18A3, vesicular ...... ongenital myasthenic syndrome.
@en
Variants in SLC18A3, vesicular ...... ongenital myasthenic syndrome.
@nl
type
label
Variants in SLC18A3, vesicular ...... ongenital myasthenic syndrome.
@en
Variants in SLC18A3, vesicular ...... ongenital myasthenic syndrome.
@nl
prefLabel
Variants in SLC18A3, vesicular ...... ongenital myasthenic syndrome.
@en
Variants in SLC18A3, vesicular ...... ongenital myasthenic syndrome.
@nl
P2093
P2860
P1433
P1476
Variants in SLC18A3, vesicular ...... congenital myasthenic syndrome
@en
P2093
Andrew G Engel
Christian Turner
Corien Verschuuren
Daniel G MacArthur
Erik-Jan Kamsteeg
Gina L O'Grady
Heather A Best
Johanna M Fock
Kathryn N North
Manoj Menezes
P2860
P304
P356
10.1212/WNL.0000000000003179
P407
P577
2016-09-02T00:00:00Z