Abstract
Duchenne muscular dystrophy (DMD) is a disorder whose pathogenesis is attributed, according to the most recent theories, to generalized membrane abnormalities, including red cell membrane. The study of erythrocyte ghosts in patients affected by DMD showed alterations in ion transport and in various enzymatic activities. Employing a spectrofluorometric method using 1-anilino-8-naphthalene sulfonate (1-8-ANS), the authors tried to characterize the erythrocyte ghosts of DMD patients, definite DMD carriers and normal controls, matched for age and sex. They found an increase of membrane polarity in DMD and definite DMD-carrier erythrocyte ghosts. Using this new method they were able to: confirm by means of a different technique the previous observations of many authors on erythrocyte ghost alterations in DMD, and find a new technique useful in detecting the DMD carriers. It is noteworthy that in such a way the detection rate of definite DMD carriers was higher than with the CPK test.
| Original language | English |
|---|---|
| Pages (from-to) | 262-269 |
| Number of pages | 8 |
| Journal | Acta Neurologica Scandinavica |
| Volume | 59 |
| Issue number | 5 |
| Publication status | Published - 1979 |
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ASJC Scopus subject areas
- Clinical Neurology
- Neuroscience(all)
Cite this
Erythrocyte spectrofluorometric abnormalities in Duchenne patients and carriers. A new approach to carrier detection. / Scarlato, G.; Meola, G.; Silani, V.; Manfredi, L.; Bottiroli, G.; Zanella, A.
In: Acta Neurologica Scandinavica, Vol. 59, No. 5, 1979, p. 262-269.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Erythrocyte spectrofluorometric abnormalities in Duchenne patients and carriers. A new approach to carrier detection
AU - Scarlato, G.
AU - Meola, G.
AU - Silani, V.
AU - Manfredi, L.
AU - Bottiroli, G.
AU - Zanella, A.
PY - 1979
Y1 - 1979
N2 - Duchenne muscular dystrophy (DMD) is a disorder whose pathogenesis is attributed, according to the most recent theories, to generalized membrane abnormalities, including red cell membrane. The study of erythrocyte ghosts in patients affected by DMD showed alterations in ion transport and in various enzymatic activities. Employing a spectrofluorometric method using 1-anilino-8-naphthalene sulfonate (1-8-ANS), the authors tried to characterize the erythrocyte ghosts of DMD patients, definite DMD carriers and normal controls, matched for age and sex. They found an increase of membrane polarity in DMD and definite DMD-carrier erythrocyte ghosts. Using this new method they were able to: confirm by means of a different technique the previous observations of many authors on erythrocyte ghost alterations in DMD, and find a new technique useful in detecting the DMD carriers. It is noteworthy that in such a way the detection rate of definite DMD carriers was higher than with the CPK test.
AB - Duchenne muscular dystrophy (DMD) is a disorder whose pathogenesis is attributed, according to the most recent theories, to generalized membrane abnormalities, including red cell membrane. The study of erythrocyte ghosts in patients affected by DMD showed alterations in ion transport and in various enzymatic activities. Employing a spectrofluorometric method using 1-anilino-8-naphthalene sulfonate (1-8-ANS), the authors tried to characterize the erythrocyte ghosts of DMD patients, definite DMD carriers and normal controls, matched for age and sex. They found an increase of membrane polarity in DMD and definite DMD-carrier erythrocyte ghosts. Using this new method they were able to: confirm by means of a different technique the previous observations of many authors on erythrocyte ghost alterations in DMD, and find a new technique useful in detecting the DMD carriers. It is noteworthy that in such a way the detection rate of definite DMD carriers was higher than with the CPK test.
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M3 - Article
C2 - 474067
AN - SCOPUS:0018744224
VL - 59
SP - 262
EP - 269
JO - Acta Neurologica Scandinavica
JF - Acta Neurologica Scandinavica
SN - 0001-6314
IS - 5
ER -