case_images: PMC10564995_01
case_images: Axial MRI images of right lower limb muscles. The right vastus intermedius muscle (a, b), medial head of gastrocnemius muscle, and soleus muscle (c, d) showed spotted fatty degeneration. The MRI sequences were T1-weighted imaging (a, c) and fat-suppressed T2-weighted imaging (b, d), respectively.
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case_images: PMC10564995_01_fneur-14-1213090-g0001.jpg
case_images: F1
case_images: MRI, which showed that the muscle groups (anterior and posterior thigh and also posterior calf) were amyotrophic and spotted fatty degeneration, accompanied by partial muscle edema (Figure 1). Meanwhile, a muscle MRI of the right upper arm showed slight edema.
case_images: Immunohistochemical staining images of left gastrocnemius muscle biopsy. Hematoxylin-eosin (HE, a), modified Gomori trichrome (MGT, b, c), cytochrome C oxidase (COX, d), oil red O (ORO, e), Sudan black B (SBB, f), major histocompatibility complex class I (MHC I, g), and dysferlin (h).
case_images: fneur-14-1213090-g0002.jpg
case_images: PMC10564995_01_fneur-14-1213090-g0002.jpg
case_images: F2
case_images: To confirm the hypothesis, muscle biopsy (Figure 2) and genetic testing were furtherly performed after getting approval.
case_images: Genetic mutations in the DYSF gene (A) and a pedigree chart (B) to illustrate the genetic inheritance among the patient and her family members.
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case_images: PMC10564995_01_fneur-14-1213090-g0003.jpg
case_images: F3
case_images: As a genetic testing result (Figure 3A), compound heterozygous G-to-T base substitution at position 5,497 in exon 49 of the DYSF gene, leading to a codon change from glutamic acid to termination codon at position 1,833 (NM_003494.3: c.5497G>T, p.Glu1833Ter), and a heterozygous C-to-G base change at position 4,638 + 8 in intron 42 of the DYSF gene with a consequence of splice, which has never been reported, were identified as candidate causative mutations. A pedigree chart was shown in Figure 3B to illustrate the genetic inheritance among the patient and her family members.