Figure 1 | Scientific Reports

Figure 1

From: Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein

Figure 1

Brain and muscle abnormalities in subject S1 at age 3 and 4 years. (a) Brain magnetic resonance imaging of the individual at the age of 3. Note cortical atrophy and reduced white matter volume in both coronal T2-weighted (left panel) and axial T1-weighted (right panel) images. (b) Muscle biopsy was performed at the age of 4 years and showed minimal myopathic changes consisting of mild variation in muscle fibre diameter (i, ii), a population of fibres with weak cytochrome c activity (iii) and a few fibres of normal size positive for neonatal myosin (iv).

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