Nemaline myopathy is a rare congenital muscle disease, that may present with neonatal and adult onset. We report the case of a 73 year-old woman in whom symptoms appeared at the age of fourthy with proximal muscle weakness, nightly cramps, muscle pain and walking impairment. Muscle biopsy showed rods and other typical findings suggesting nemaline myopathy. The clinical and histological features of this case will be compared with a few similar reports of the literature, suggesting this form in the differential diagnosis of adult onset myopathy.
Ginanneschi, F., Mondelli, M., Malandrini, A., Dotti, M.T., Federico, A. (2000). Nemaline myopathy: Case report with adult onset [Miopatia nemalinica. Descrizione di un caso ad esordio adulto]. RIVISTA DI NEUROBIOLOGIA, 46(56), 301-305.
Nemaline myopathy: Case report with adult onset [Miopatia nemalinica. Descrizione di un caso ad esordio adulto]
Ginanneschi, F.;Malandrini, A.;Dotti, M. T.;Federico, A.
2000-01-01
Abstract
Nemaline myopathy is a rare congenital muscle disease, that may present with neonatal and adult onset. We report the case of a 73 year-old woman in whom symptoms appeared at the age of fourthy with proximal muscle weakness, nightly cramps, muscle pain and walking impairment. Muscle biopsy showed rods and other typical findings suggesting nemaline myopathy. The clinical and histological features of this case will be compared with a few similar reports of the literature, suggesting this form in the differential diagnosis of adult onset myopathy.
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
https://hdl.handle.net/11365/418535
Attenzione
Attenzione! I dati visualizzati non sono stati sottoposti a validazione da parte dell'ateneo