Results: 5

1.
Fig. 3

Fig. 3. From: Congenital myopathy caused by a novel missense mutation in the CFL2 gene.

Pedigree of the family. The arrow indicates the proband. The paternal grandfather of the mother was a sibling of the father’s mother. There are no other affected family members.

C.W. Ockeloen, et al. Neuromuscul Disord. ;22(7):632-639.
2.
Fig. 2

Fig. 2. From: Congenital myopathy caused by a novel missense mutation in the CFL2 gene.

Quantitative muscle ultrasound results of patient 2 at the age of 3 years, showing abnormal echo intensities indicating structural muscle pathology.

C.W. Ockeloen, et al. Neuromuscul Disord. ;22(7):632-639.
3.
Fig. 1

Fig. 1. From: Congenital myopathy caused by a novel missense mutation in the CFL2 gene.

(A–C) Patient 1 at the age of 21 years. (D–F) Patient 2 at the age of 5 years and 6 months. Consent for publication of these photographs was given by the proband and the parents.

C.W. Ockeloen, et al. Neuromuscul Disord. ;22(7):632-639.
4.
Fig. 4

Fig. 4. From: Congenital myopathy caused by a novel missense mutation in the CFL2 gene.

Muscle biopsy of patient 1 taken from the quadriceps muscle at the age of 13 years. (A) Dystrophic features with variation of muscle fiber size, interstitial fibrosis and fat. (B) Irregular cytoplasmic staining of muscle fibers with many internal nuclei. (C) Red staining rods and cytoplasmic bodies. (D) Type 1 fiber predominance with rubbed out muscle fibers. (E) Irregularly stained core-like regions without mitochondria. (F) Immunohistochemical stains showing irregular desmin and (G) gamma-sarcoglycan-positive aggregates. (A and B) Hematoxylin–Phloxin, (C) Gomori, (D) ATP-ase 4.2, (E) SDH, (F) immunohistochemical stain with desmin, (G) immunohistochemical stain with gamma-sarcoglycan. (A–G) Bar = 50 μm.

C.W. Ockeloen, et al. Neuromuscul Disord. ;22(7):632-639.
5.
Fig. 5

Fig. 5. From: Congenital myopathy caused by a novel missense mutation in the CFL2 gene.

Muscle biopsy of patient 2 taken from the vastus lateralis muscle at the age of 3 years and 3 months. (A) Variation of muscle fiber diameter, irregularly stained cytoplasm and some fibers with internal nuclei. (B) Darkly stained accumulations of rods. (C) Fiber type 1 predominance. (D) Desmin positive aggregates. (E) Myotilin and (F) ZASP-positive aggregates. (G) Circumscribed area with accumulation of nemaline rods in the center of muscle fiber. (H) Muscle fiber with core-like structure, myofibrillar degeneration, Z-band streaming and focal accumulation of electron dense material and degenerating membranous organelles. (A) Hematoxylin–Phloxin, (B) Gomori, (C) immunohistochemical stains with slow myosin, (D) desmin, (E) myotilin and (F) ZASP, (G and H) electron microscopy. Bar = 50 μm for (A–D) and 1 μm for (E and F).

C.W. Ockeloen, et al. Neuromuscul Disord. ;22(7):632-639.

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