Isolated beta-methylcrotonyl-CoA carboxylase deficiency
Nov. 30, 2023
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Congenital muscular dystrophy: merosin deficient form (muscle histology showing absence of laminin alpha2)
Merosin immunolabeling in normal (A) and merosin-deficient (B) muscles were done with monoclonal antibody to the C-terminal portion of merosin, which was coupled to Texas red. Note the complete absence of bright signal from the surface of muscle fibers in B (magnification: 200x). (Contributed by Dr. Gyula Acsadi.)
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Disorders
- Fukuyama muscular dystrophy
- Muscle-eye-brain disease
- Walker-Warburg disease