Autosomal recessive congenital myasthenic syndrome due to defective synaptic vesicles exocytosis

ORPHA:716903疾病亚型暂无中文名

别名

Autosomal recessive CMS due to defective synaptic vesicles exocytosis

基因	名称	关联类型
UNC13A	unc-13 homolog A	Disease-causing germline mutation(s) in
VAMP1	vesicle associated membrane protein 1	Disease-causing germline mutation(s) in
SNAP25	synaptosome associated protein 25	Disease-causing germline mutation(s) in
SYT2	synaptotagmin 2	Disease-causing germline mutation(s) (loss of function) in
LAMA5	laminin subunit alpha 5	Disease-causing germline mutation(s) in
RPH3A	rabphilin 3A	Disease-causing germline mutation(s) in

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