Molecular analysis identified two new heterozygous missense mutations: (a) in AGRN (MIM 103320) NM_198576.4:c.[5851C > T], NP_940978.2: p.(Arg1951Cys), (rs746117937) responsible for myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, autosomal recessive (MIM 615120), and SCP2 (MIM 184755) NM_002979.5 c.[886C > T] and NP_001317516.1:p.(Pro296Ser) responsible for leukoencephalopathy with dystonia and motor neuropathy, autosomal recessive (MIM 613724). Here, SCP2 is linked to Leukoencephalopathy.