Journal of clinical neuromuscular diseaseHumansMaleAdolescentSynaptotagmin IIMutation
SYT2-Related Disease: A Case-Based Review.
Pedro Nogueira Fontana, Carolina da Cunha Correia, Ana Marina Dutra Ferreira da Silva, Alzira Alves de Siqueira Carvalho
Published: 202510.1097/CND.0000000000000508
Abstract
OBJECTIVES: Synaptotagmin-2-related disease is an ultrarare entity, characterized by distal muscle atrophy in the lower limbs, foot deformities and, in some cases, neonatal hypotonia. Most mutations are concentrated in the C2B domain, critical for th…
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