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Muscle involvement in mucolipidosis IV
R Weitz1, I Kramer, I Nissenkorn
1Pediatric Neurology Unit, Beilinson Medical Center, Petah Tiqva, Israel.
Brain & Development
|January 1, 1990
Summary
Mucolipidosis type IV, a lysosomal storage disease, can mimic congenital myopathy in infants. Skeletal muscle involvement explains common symptoms like motor delay and hypotonia.
Area of Science:
- Neurology
- Genetics
- Cell Biology
Background:
- Congenital myopathies are a group of neuromuscular disorders characterized by muscle weakness present from birth.
- Lysosomal storage diseases are a class of inherited metabolic disorders that result from defects in lysosomal function.
- Mucolipidosis type IV (ML4) is a rare autosomal recessive lysosomal storage disease with multisystemic involvement.