"Floppy Infant". Decreased fetal movement in late pregnancy. Now distinct delayed motor development. Muscle biopsy of the vastus lateralis.
- Severe lipomatosis of the skeletal muscle. The overview shows a distinct variation in calibre of the muscle fascicles. Advanced group atrophy (neurogenic atrophy), areas with increased density of nuclei.
- The less atrophic fascicles show an increased variation in caliber in cross-section but no signs of myopathy.
- Distinct perimyseal fibrosis
- The clustered conglomeration of nuclei is typical for neurogenic muscle atrophy.