Table 1 Clinical features of subjects in this study with TRAPPC11 variants.
S1 | S2 | S3 | S4 | |
|---|---|---|---|---|
Variant (s) | c.1287 + 5G > A/c.3379_3380insT | c.2938G > A/p.Gly980Arg | c.2938G > A/p.Gly980Arg | c.1287 + 5G > A |
Age of onset | first year of life | first year of life | 3–4 years | not reported, family history of early onset |
Muscle symptoms | axial hypotonia | axial hypotonia | axial hypotonia | none |
Motor ability | unable to sit or stand | unable to sit or stand | walks with support | walks without support |
muscle biopsy | minimal myopathic changes | myopathic | myopathic | not performed |
CK (IU/l) | 350–2817 | 600–1800 | 400–1500 | 700–1000 |
Hyperkinesia | yes | no | no | no |
Spasticity | yes | no | no | no |
Choreiform movements | yes | no | no | generalized |
Other neurological symptoms | no | no | no | ataxia, primary generalized seizures |
Intellectual disability | yes | yes | yes | moderate |
microcephaly | yes | no | no | no |
Neuroimaging | cerebral atrophy and reduced white matter volume | not done | mild cortical atrophy | mild cerebral atrophy |
Ocular involvement | no | no | cataract | no |
Hepatic involvement | no | no | reduced cholinesterase levels | no |
