Skip to main content
Figure 2 | Orphanet Journal of Rare Diseases

Figure 2

From: Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease

Figure 2

T1-weighted MRI of the proband (III-1). (A, B) Coronal images of thigh (A) and lower leg (B). T1-weighted coronal leg MRIs of lower extremities demonstrated more severe fatty replacement and muscle atrophies in the lower leg than did those of the thigh. (C) Axial image of the middle thigh. Vastus lateralis, semimembranous muscles showed moderate to severe fatty replacements, but they revealed more muscles than fat. However, sartorius, gracilis, biceps femoris, and rectus femoris muscles revealed fatty streaks. (D, E) Axial images at the upper third (D) and lower third calf (E). T1-weighted images revealed predominantly severe involvement of anterior (black arrowhead; anterior tibialis, extensor hallucis longus and digitorum longus) and lateral (white arrowhead; peroneus longus and brevis) compartment muscles, and superficial and deep posterior compartment (arrow; soleus and tibialis posterior) muscles showed mild involvement.

Back to article page

Orphanet Journal of Rare Diseases

ISSN: 1750-1172