Abstract
We studied a 5-yr-old boy clinically presenting congenital myopathy. Muscle biopsy showed sarcoplasmic accumulation of desmin filaments leading to diagnosis of desmin storage myopathy. An immunohistochemical study of other cytoskeletal proteins (actin, alpha-actinin, vimentin and dystrophin) was performed. Desmin positive areas reacted strongly with anti-midrod and C-terminus dystrophin antibodies. Probed with the same antibodies by Western blot, desmin and dystrophin showed normal molecular size but densitometric analysis demonstrated a parallel increase of both proteins. Our results indicate that intrasarcoplasmic desmin storage is associated with an abnormal accumulation of dystrophin. Since no other cytoskeletal proteins are accumulated this finding seems to be specific and suggests a possible structural and functional association between these two proteins in striated muscle.
| Original language | English |
|---|---|
| Pages (from-to) | 169-175 |
| Number of pages | 7 |
| Journal | Neuromuscular Disorders |
| Volume | 2 |
| Issue number | 3 |
| DOIs | |
| Publication status | Published - 1992 |
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Keywords
- Congenital myopathy
- desmin
- dystrophin
- intermediate filament myopathies
ASJC Scopus subject areas
- Clinical Neurology
- Pediatrics, Perinatology, and Child Health
- Developmental Neuroscience
- Neurology
Cite this
Congenital myopathy associated with abnormal accumulation of desmin and dystrophin. / Prelle, A.; Moggio, M.; Comi, G. P.; Gallanti, A.; Checcarelli, N.; Bresolin, N.; Ciscato, P.; Fortunato, F.; Scarlato, G.
In: Neuromuscular Disorders, Vol. 2, No. 3, 1992, p. 169-175.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Congenital myopathy associated with abnormal accumulation of desmin and dystrophin
AU - Prelle, A.
AU - Moggio, M.
AU - Comi, G. P.
AU - Gallanti, A.
AU - Checcarelli, N.
AU - Bresolin, N.
AU - Ciscato, P.
AU - Fortunato, F.
AU - Scarlato, G.
PY - 1992
Y1 - 1992
N2 - We studied a 5-yr-old boy clinically presenting congenital myopathy. Muscle biopsy showed sarcoplasmic accumulation of desmin filaments leading to diagnosis of desmin storage myopathy. An immunohistochemical study of other cytoskeletal proteins (actin, alpha-actinin, vimentin and dystrophin) was performed. Desmin positive areas reacted strongly with anti-midrod and C-terminus dystrophin antibodies. Probed with the same antibodies by Western blot, desmin and dystrophin showed normal molecular size but densitometric analysis demonstrated a parallel increase of both proteins. Our results indicate that intrasarcoplasmic desmin storage is associated with an abnormal accumulation of dystrophin. Since no other cytoskeletal proteins are accumulated this finding seems to be specific and suggests a possible structural and functional association between these two proteins in striated muscle.
AB - We studied a 5-yr-old boy clinically presenting congenital myopathy. Muscle biopsy showed sarcoplasmic accumulation of desmin filaments leading to diagnosis of desmin storage myopathy. An immunohistochemical study of other cytoskeletal proteins (actin, alpha-actinin, vimentin and dystrophin) was performed. Desmin positive areas reacted strongly with anti-midrod and C-terminus dystrophin antibodies. Probed with the same antibodies by Western blot, desmin and dystrophin showed normal molecular size but densitometric analysis demonstrated a parallel increase of both proteins. Our results indicate that intrasarcoplasmic desmin storage is associated with an abnormal accumulation of dystrophin. Since no other cytoskeletal proteins are accumulated this finding seems to be specific and suggests a possible structural and functional association between these two proteins in striated muscle.
KW - Congenital myopathy
KW - desmin
KW - dystrophin
KW - intermediate filament myopathies
UR - http://www.scopus.com/inward/record.url?scp=0026490347&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0026490347&partnerID=8YFLogxK
U2 - 10.1016/0960-8966(92)90003-O
DO - 10.1016/0960-8966(92)90003-O
M3 - Article
C2 - 1483042
AN - SCOPUS:0026490347
VL - 2
SP - 169
EP - 175
JO - Neuromuscular Disorders
JF - Neuromuscular Disorders
SN - 0960-8966
IS - 3
ER -