Wokke, J.H.J.

patient disease mutation muscle study syndrome spg 7 mutation pompe neurology muscle strength region symptom function pompe disease spg 4 van der ploeg bulbar weakness position range onset netherland center university enzyme replacement therapy strength supine position department follow-up sumscore van doorn pa group reuser aj result bulbar region symptoms neurol course van der beek involvement muscle weakness e 1369delg spastic 1369delg supine diagnosis erasmus mc university phenotype mrc sumscore analysis table sclerosis ficiency treatment late-onset pompe disease van den berg erasmu myasthenic syndromes spastic paraplegia reuser motor ploeg enzyme decline response month spastic paraparesis duration right orphanet journal disorder percentage – rotterdam therapy folate wheelchair adult bulbar region involvement lactic acidosis bg protein late-onset