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Severe dystrophinopathy in a patient with congenital hypotonia (1996)

Cordone, G. ; Bado, M. ; Morreale, G. ; [et al.]

Springer

Child's nervous system 12 (1996), S. 466-469

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ISSN: 1433-0350

Keywords: Congenital hypotonia ; Dystrophinopathy ; Muscular dystrophy ; Dystrophin

Source: Springer Online Journal Archives 1860-2000

Topics: Medicine

Notes: Abstract We studied a 2-year-old child with congenital hypotonia and proximal muscle weakness. There was no family history of neuromuscular disease. The child also had hypospadia. The central nervous system was apparently not involved. Muscle biopsy showed a dystrophic pattern and dystrophin was absent as shown by immunofluorescence and by Western blot. Vinculin and spectrin were also reduced, while merosin was normal in muscle fibers. This observation suggests that congenital hypotonia may be associated with a severe form of dystrophinopathy.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1007/BF00261626

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