Severe dystrophinopathy in a patient with congenital hypotonia

G. Cordone, M. Bado, G. Morreale, M. Pedemonte, C. Minetti

Research output: Contribution to journalArticle

4 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)466-469
Number of pages4
JournalChild's Nervous System
Volume12
Issue number8
Publication statusPublished - Aug 1996

Fingerprint

Muscle Hypotonia
Vinculin
Spectrin
Muscles
Neuromuscular Diseases
Dystrophin
Muscle Weakness
Laminin
Fluorescent Antibody Technique
Central Nervous System
Western Blotting
Biopsy

Keywords

  • Congenital hypotonia
  • Dystrophin
  • Dystrophinopathy
  • Muscular dystrophy

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

Cite this

Severe dystrophinopathy in a patient with congenital hypotonia. / Cordone, G.; Bado, M.; Morreale, G.; Pedemonte, M.; Minetti, C.

In: Child's Nervous System, Vol. 12, No. 8, 08.1996, p. 466-469.

Research output: Contribution to journalArticle

Cordone, G. ; Bado, M. ; Morreale, G. ; Pedemonte, M. ; Minetti, C. / Severe dystrophinopathy in a patient with congenital hypotonia. In: Child's Nervous System. 1996 ; Vol. 12, No. 8. pp. 466-469.
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