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 1The alternative text for this image may have been generated using AI.

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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