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Arquivos de Neuro-Psiquiatria

Print version ISSN 0004-282X

Arq. Neuro-Psiquiatr. vol.53 no.3a São Paulo Sept. 1995 

Immunohistochemical alterations of dystrophin in congenital muscular dystrophy


Alterações imuno-hístoquímicas da distrofina na distrofia muscular congênita



Lineu Cesar WerneckI; Eduardo BonillaII

IServiço de Doenças Neuromusculares do Hospital de Clinicas da Universidade Federal do Paraná, Curitiba, Brasil
IIDepartment of Neurology of the College of Physicians and Surgeons of Columbia University, New York, USA




The dystrophin distribution in the plasma muscle membrane using immunohystochemistry was studied in 22 children with congenital muscular dystrophy. The dystrophin was detected by immunofluorescence in muscle biopsy through a polyclonal antibody. All the cases had patchy interruptions of the fluorescence in the plasma membrane. A large patchy interruption of the sarcolemma was found in 17 cases, small interruption in 12, and a combination of large and small patchy discontinuity in 7. Small gaps around the fiber like a rosary were found in 15 cases. The frequency of these abnormalities ranged cases from: all fibers in 5 cases, frequent in 8, occasional in 5, and rare in 4. Five cases had total absence of immunofluorescence. These results suggest that the dystrophin expression is abnormal in this group of children and that this type of abnormalities can not be differentiated from early Becker muscular dystrophy nor childhood autosomal recessive muscular dystrophy through immunohystochemistry alone.

Key words:congenital muscular dystrophy, dystrophin, congenital myopathies.


Foi estudada a distribuição da distrofina na membrana plasmática das fibras musculares em 22 crianças com distrofia muscular congênita, através de técnicas de imuno-histoquímica. A distrofina foi identificada nas biópsias musculares processadas a fresco, por técnicas de imunofluorescência utilizando anticorpos policlonais. Todos os casos tinham interrupções da imunofluorescência na membrana plasmática. Em 17 elas eram grandes, em 12 eram pequenas e em 7 eram de ambos os tipos. Fibras com interrupções pequenas e constantes, como um rosário, foram vistas em 15 casos. Essas anormalidades estavam presentes em todas as fibras em 5 casos, eram frequentes em 8, ocasionais em 5 e raras em 4. Cinco casos mostraram fibras sem distrofina. Esses dados sugerem que a expressão da distrofina é anormal nesse grupo de crianças. Essas anormalidades podem também ser encontradas em casos precoces de distrofia muscular de Becker e distrofia autossômica recessiva da infância. Portanto, isoladamente a imuno-histoquímica não permite a diferenciação.

Palavras-chave: distrofia muscular congênita, distrofina, miopatias congênitas.



Texto completo disponível apenas em PDF.

Full text available only in PDF format.




The authors are grateful to Miss Sumico Nakagawa for the technical assistance and Miss Susana Castilho for the manuscript review.



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Aceite: 13-fevereiro-1995.



Dr. Lineu Cesar Wemeck - Hospital de Clínicas, Rua General Carneiro 181, Serviço de Doenças Neuromusculares, 3º andar - 80069-165 Curitiba PR - Brasil.

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