Desmin-related myopathy: report of a rare case.
Neurol India
;
2005 Jun; 53(2): 229-31
Artigo
em Inglês
| IMSEAR
| ID: sea-120829
ABSTRACT
The Protein Surplus Myopathies (PSM) are characterized by accumulation of protein aggregates, identifiable ultrastructurally, resulting due to mutations of the encoding genes. Desmin-related myopathies (DRM) are a form of PSM characterized by mutations of the desmin gene resulting in the formation of protein aggregates comprising mutant protein desmin and disturbance of the regular desmin intermediate network in the muscle fibers. We describe a rare case of DRM in a 23-year-old man who presented with complaints of difficulty in climbing stairs and running since the age of 5 years. EMG studies revealed a myopathic pattern. Muscle biopsy showed the features of muscular dystrophy with bluish rimmed vacuoles and sarcoplasmic inclusions, which were immunoreactive to desmin. Ultrastructural examination showed sarcoplasmic bodies and granulofilamentous inclusions. Although rare, the possibility of DRM/desminopathy should be considered in the presence of bluish rimmed vacuoles on light microscopy and characteristic ultrastructural inclusions. To the best of our knowledge this is the first case of DRM/desminopathy reported from India.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Retículo Sarcoplasmático
/
Humanos
/
Masculino
/
Microscopia Imunoeletrônica
/
Músculo Esquelético
/
Adulto
/
Desmina
/
Doenças Musculares
Tipo de estudo:
Estudo prognóstico
Idioma:
Inglês
Revista:
Neurol India
Ano de publicação:
2005
Tipo de documento:
Artigo
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