Article
Mild clinical phenotype in a 12-year-old boy with partial merosin deficiency and central and peripheral nervous system abnormalities.
Neuromuscular disorders : NMD - 1 Oct 1996
Mora M, Moroni I, Uziel G, di Blasi C, Barresi R, Farina L, Morandi L
Abstract excerpt
We found partial merosin deficiency in a boy presenting at 12 yr with marked limb weakness and a waddling gait. Magnetic resonance imaging (MRI) showed the characteristic white matter abnormalities of merosin-negative congenital muscular dystrophy. There were also peripheral demyelinating polyneu...
Topics
- Central Nervous System Diseases
- Child
- Cytoskeletal Proteins
- Dystrophin
- Humans
- Immunohistochemistry
- Laminin
- Magnetic Resonance Imaging
- Male
- Membrane Glycoproteins
- Muscle, Skeletal
- Neural Conduction
- Peripheral Nervous System Diseases
- Phenotype
- Sarcoglycans