case_images: PMC10578209_01
case_images: PMC10578209_02
case_images: PMC10578209_03
case_images: PMC10578209_04
case_images: Muscle biopsy taken at the age of 7 months. (A) Darkly stained type 1 fibers are predominantly smaller in size than lightly stained type 2 fibers (NADH-TR staining). (B) H&E staining showing central nuclei in several fibers (arrows). (C) Red nemaline bodies are accumulated in small type 1 fibers and scattered rods are seen in larger fibers (Gomori trichrome staining). (D) Semithin section showing darkly staining rod-like structures (Toluidine blue staining). (E) Electron micrograph showing electron-dense ovoid-shaped nemaline rods.
case_images: jnd-10-jnd230026-g001.jpg
case_images: PMC10578209_04_jnd-10-jnd230026-g001.jpg
case_images: jnd-10-jnd230026-g001
case_images: These findings were confirmed at electron microscopy, including myofibrillar disruption in small fibers, and led to a suspicion of TPM3-caused nemaline myopathy (Fig. 1).
case_images: PMC10578209_05
case_images: PMC10578209_06
case_images: PMC10578209_07
case_images: (A) A schematic representation of the effect of the TPM3 variants on pre-mRNA splicing. (B) Sashimi plots showing the splicing pattern in the 5'end of TPM3. Inclusion of intron 1a and a non-coding exon in transcripts from myotubes of the patient, and normal splicing of exon 1a to exon 2b in control myotubes. (C) Western blot showing low expression of TPM3 in myoblasts from the patient.
case_images: jnd-10-jnd230026-g002.jpg
case_images: PMC10578209_10_jnd-10-jnd230026-g002.jpg
case_images: jnd-10-jnd230026-g002
case_images: TPM3 molecule was consistently lower in all patient-derived samples run compared with the control myoblast extracts and when normalized for total protein load. The expression of TPM3 was roughly 45% of the expression in the control (Fig. 2C).
case_images: PMC10578209_08
case_images: (A) A schematic representation of the effect of the TPM3 variants on pre-mRNA splicing. (B) Sashimi plots showing the splicing pattern in the 5'end of TPM3. Inclusion of intron 1a and a non-coding exon in transcripts from myotubes of the patient, and normal splicing of exon 1a to exon 2b in control myotubes. (C) Western blot showing low expression of TPM3 in myoblasts from the patient.
case_images: jnd-10-jnd230026-g002.jpg
case_images: PMC10578209_10_jnd-10-jnd230026-g002.jpg
case_images: jnd-10-jnd230026-g002
case_images: TPM3 molecule was consistently lower in all patient-derived samples run compared with the control myoblast extracts and when normalized for total protein load. The expression of TPM3 was roughly 45% of the expression in the control (Fig. 2C).
case_images: PMC10578209_09
case_images: PMC10578209_10
case_images: (A) A schematic representation of the effect of the TPM3 variants on pre-mRNA splicing. (B) Sashimi plots showing the splicing pattern in the 5'end of TPM3. Inclusion of intron 1a and a non-coding exon in transcripts from myotubes of the patient, and normal splicing of exon 1a to exon 2b in control myotubes. (C) Western blot showing low expression of TPM3 in myoblasts from the patient.
case_images: jnd-10-jnd230026-g002.jpg
case_images: PMC10578209_10_jnd-10-jnd230026-g002.jpg
case_images: jnd-10-jnd230026-g002
case_images: TPM3 molecule was consistently lower in all patient-derived samples run compared with the control myoblast extracts and when normalized for total protein load. The expression of TPM3 was roughly 45% of the expression in the control (Fig. 2C).