Immunohistochemical alterations of dystrophin in congenital muscular dystrophy

Arquivos de Neuro-Psiquiatria

Lineu Cesar Werneck²  Eduardo Bonilla¹ 

[1] ,Universidade Federal do Paraná Hospital de Clinicas Serviço de Doenças NeuromuscularesCuritiba,Brasil

关键词: congenital muscular dystrophy;    dystrophin;    congenital myopathies;    distrofia muscular congênita;    distrofina;    miopatias congênitas;   

DOI  :  10.1590/S0004-282X1995000300008

来源: SciELO

【 摘 要 】

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.

【 授权许可】

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