J Neurol. 1992 Feb;239(2):76-8.

Dystrophin deficiency in a case of congenital myopathy.

Prelle A, Medori R, Moggio M, Chan HW, Gallanti A, Scarlato G, Bonilla E.

Source

Istituto di Clinica Neurologica, Centro Dino Ferrari, Universita di Milano, Italy.

Abstract

We studied a 5-year-old boy who had the "floppy infant syndrome" and a dystrophic pattern on muscle biopsy. According to the clinical presentation and the histopathological findings the diagnosis of congenital muscular dystrophy with associated intellectual retardation was made. Immunohistochemical and immunoblot studies using anti-dystrophin antibodies showed complete absence of the protein in the patient's muscle. DNA analysis using cDNA probes showed a deletion at the 5' end of the dystrophin gene. Our observations on this patient suggest a new phenotypical variant of Duchenne muscular dystrophy.

PMID:: 1552307; [PubMed - indexed for MEDLINE]

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Cited by 1 PubMed Central article

Clinical heterogeneity of duchenne muscular dystrophy (DMD): definition of sub-phenotypes and predictive criteria by long-term follow-up. [PLoS One. 2009]
Clinical heterogeneity of duchenne muscular dystrophy (DMD): definition of sub-phenotypes and predictive criteria by long-term follow-up.
Desguerre I, Christov C, Mayer M, Zeller R, Becane HM, Bastuji-Garin S, Leturcq F, Chiron C, Chelly J, Gherardi RK. PLoS One. 2009; 4(2):e4347. Epub 2009 Feb 5.

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