case_images: PMC11307083_01
case_images: Family tree. *p.R528H (c.1583G>A).
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case_images: The proband (PII.2), a male Caucasian patient aged 68, coming from a family of 5 siblings (Fig. 1), without evidence of consanguinity, was referred to our tertiary center in 2020, for progressive weakness of the four limbs evolving since the age of 35.
case_images: Lower limb MRI. Major fatty replacement of the thigh muscles with partial sparing of the adductor muscle, the rectus femoris and the gracilis muscles (arrows).
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case_images: Magnetic resonance imaging (MRI) of lower limbs showed a major fatty replacement of the thigh muscles with a partial sparing of the adductor muscle, the rectus femoris and the gracilis muscles and a complete fatty replacement of the psoas muscles at the pelvis (Fig. 2 and 3).
case_images: MRI of the pelvis. Complete fatty replacement of the psoas muscles (arrows).
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case_images: Magnetic resonance imaging (MRI) of lower limbs showed a major fatty replacement of the thigh muscles with a partial sparing of the adductor muscle, the rectus femoris and the gracilis muscles and a complete fatty replacement of the psoas muscles at the pelvis (Fig. 2 and 3).
case_images: (a) H& E stain x10; note the internalized nuclei (arrows), necrotic fibers (spike arrows) and the numerous atrophic fibers (non-indicated) bars = 100mum. (b) ATPase pH 9,4 stain x2; normal fiber-type distribution, as Type II atrophic fibers can be spotted (arrow); bars = 1000mum. Type I predominance. (c,d) Same spot in Gomori trichrome stain (c) and NADH (d) stain x20, respectively; note the variable aspect of vacuoles (arrow) in each stain. Tubular aggregates have a dark staining pattern in NADH ((d) - arrow) despite the aspect of vacuoles (+/- rimmed) in Gomori trichrome stain ((c) - arrow) bars = 100mum.
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case_images: Muscle biopsy of the left biceps was sampled at the age of 68 and showed numerous atrophic fibers with many vacuoles containing tubular aggregates (Fig.4).