Associated Papers
Exome sequencing and microarray identified a novel large exonic deletion in SYT2 gene in an ultra-rare case with recessive CMS type 7.
Kumar CPR et al.
Journal of Genetics, 2023
Disorders of synaptic vesicle fusion machinery.
Melland H et al.
Journal of Neurochemistry, 2021
A new de novo SYT2 mutation presenting as distal weakness. Neuropathy or neuromuscular junction dysfunction?
Fionda L et al.
Journal of the Peripheral Nervous System : Jpns, 2021
New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromes.
Bauché S et al.
Neurology. Genetics, 2020
Identification of a Novel de Novo Variant in the SYT2 Gene Causing a Rare Type of Distal Hereditary Motor Neuropathy.
Mironovich O et al.
Genes, 2020
Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome.
Donkervoort S et al.
American Journal of Medical Genetics. Part A, 2020
Identification of a new SYT2 variant validates an unusual distal motor neuropathy phenotype.
Montes-Chinea NI et al.
Neurology. Genetics, 2018
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