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
Distal hereditary motor neuropathies: Mutation spectrum and genotype-phenotype correlation.
Frasquet M et al.
European Journal of Neurology, 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
Select a paper to view details