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
Dominant and recessive congenital myasthenic syndromes caused by SYT2 mutations.
Maselli RA et al.
Muscle & Nerve, 2021
New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromes.
Bauché S et al.
Neurology. Genetics, 2020
Recessive congenital myasthenic syndrome caused by a homozygous mutation in SYT2 altering a highly conserved C-terminal amino acid sequence.
Maselli RA et al.
American Journal of Medical Genetics. Part A, 2020
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