PMC9968920_01
Brain MRI. Symmetrical sphenoid wings-like lesions are shown in bilateral lateral ventricles with slight hypointensity on axial T1 (A); slight hyperintensity on axial T2 (B) and FLAIR (C). No obvious abnormality in the sulcus and the gyrus was shown.
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F1
T1 and slight hyperintensity on T2 and FLAIR (Figure 1). The MRI muscle showed diffuse atrophy and fatty degeneration in thigh muscles, soleus, and the lateral head of gastrocnemius muscles; the sartorius, the gracilis, and the rectus femoris muscles were selectively preserved (Figure 2).
MRI of lower extremities. Muscle MRI T1 (A) and T2 (B) show diffuse atrophy and fatty degeneration within thigh muscles; the sartorius, the gracilis, and the rectus femoris muscles are selectively preserved. MRI T1 (C) and T2 (D) of calf muscles show diffuse atrophy and fatty degeneration in the soleus and the lateral head of gastrocnemius muscles. No signs of inflammation and edema are shown.
fneur-14-1078151-g0002.jpg
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F2
T1 and slight hyperintensity on T2 and FLAIR (Figure 1). The MRI muscle showed diffuse atrophy and fatty degeneration in thigh muscles, soleus, and the lateral head of gastrocnemius muscles; the sartorius, the gracilis, and the rectus femoris muscles were selectively preserved (Figure 2).
Electropherograms of sanger sequencing results. (A, C) The c.2749 + 2dup mutation is shown in the patient, while her son is wild type (A: patient, C: son). The red dotted line indicates the insertion position. c.2749 + 2dup (Reference sequence: TGTCAGCGT(-)AAGTCCTGAACTATTG; Mutated sequence: TGTCAGCGT(T)AAGTCCTGAACTATT). (B, D) The c.8689C>T truncated mutation is in the patient and her son (B: patient, D: son). The red arrows indicate mutation position. c.8689C>T (Reference sequence: TACACTACCCGAAGAATTGGTCCAG; Mutated sequence: TACACTACCTGAAGAATTGGTCCAG).
fneur-14-1078151-g0003.jpg
PMC9968920_01_fneur-14-1078151-g0003.jpg
F3
Next-generation sequencing (NGS) shows two loci variations in the LAMA2 gene, i.e., c.2749 + 2dup and c.8689C>T (Figure 3).