Table 1 Comparison of the present patient and previously reported patients with TRAPPC11 mutations

Number of patient

3

5

1

Age of onset

Early school age

Early childhood onset

Around 1-year-old or even earlier

Muscle symptoms

Proximal weakness, myalgia, cramps

Mild weakness and hypotonia (2)^b

Proximal weakness, hypotonia

Muscle pathology

Myopathic (1)^b

Myopathic (2)^b

Dystrophic

CK (IU/L)

600~2800

300~1000

6000~9000

Head circumference

Within normal limit

<3rd percentile (4)^b

(−)

Intellectual disability

(−)

(+)

Borderline

Ataxia

(−)

(+)

(−)

Choreiform movement

(−)

(+)

(−)

Other neurological problems

(−)

Generalized seizure (1)^b

(−)

abnormal EEG (2)^b

Neuroimaging

Not available

Mild cerebral atrophy (2)^b

Reduced white matter volume

Cardiac involvement

Enlarged right ventricle (1)^b

(−)

(−)

Skeletal involvement

Hip dysplasia, scoliosis

Limb asymmetry (1)^b

Lordosis

Ocular involvement

Esotropia and myopia (1)^b cataract (1)^b

Exophoria, anisometropia, and amblyopia (1)^b

Infantile—onset cataract

Hepatic involvement

(−)

(−)

Steatosis