-transparent.png){kind=logo}
Dystrophin, the protein product of the Duchenne muscular dystrophy (DMD) gene, was studied in 19 patients with Xp21 disorders and in 25 individuals with non-Xp21 muscular dystrophy. Antibodies raised to seven different regions spanning most of the protein were used for immunocytochemistry. In all patients specific dystrophin staining anomalies were detected and correlated with clinical severity and also gene deletion. In patients with Becker muscular dystrophy (BMD) the anomalies detected ranged from inter- and intra-fibre variation in labelling intensity with the same antibody or several antibodies to general reduction in staining and discontinuous staining. In vitro evidence of abnormal dystrophin breakdown was observed reanalysing the muscle of patients, with BMD and not that of non-Xp21 dystrophies, after it has been stored for several months. A number of patients with DMD showed some staining but this did not represent a diagnostic problem. Based on the data presented, it was concluded that immunocytochemistry is a powerful technique in the prognostic diagnosis of Xp21 muscular dystrophies.
F Muntoni, and
A Mateddu, and
C Cianchetti, and
M G Marrosu, and
A Clerk, and
M Cau, and
R Congiu, and
A Cao, and
M A Melis
October 1993,
Journal of neurology, neurosurgery, and psychiatry,
F Muntoni, and
A Mateddu, and
C Cianchetti, and
M G Marrosu, and
A Clerk, and
M Cau, and
R Congiu, and
A Cao, and
M A Melis
January 1989,
Neuron,
F Muntoni, and
A Mateddu, and
C Cianchetti, and
M G Marrosu, and
A Clerk, and
M Cau, and
R Congiu, and
A Cao, and
M A Melis
December 2005,
Neurology,
F Muntoni, and
A Mateddu, and
C Cianchetti, and
M G Marrosu, and
A Clerk, and
M Cau, and
R Congiu, and
A Cao, and
M A Melis
May 1991,
No to shinkei = Brain and nerve,
F Muntoni, and
A Mateddu, and
C Cianchetti, and
M G Marrosu, and
A Clerk, and
M Cau, and
R Congiu, and
A Cao, and
M A Melis
December 1993,
Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae,
F Muntoni, and
A Mateddu, and
C Cianchetti, and
M G Marrosu, and
A Clerk, and
M Cau, and
R Congiu, and
A Cao, and
M A Melis
December 1992,
Arquivos de neuro-psiquiatria,
F Muntoni, and
A Mateddu, and
C Cianchetti, and
M G Marrosu, and
A Clerk, and
M Cau, and
R Congiu, and
A Cao, and
M A Melis
January 2004,
Neurological research,
F Muntoni, and
A Mateddu, and
C Cianchetti, and
M G Marrosu, and
A Clerk, and
M Cau, and
R Congiu, and
A Cao, and
M A Melis
January 1992,
Pediatric neurology,
F Muntoni, and
A Mateddu, and
C Cianchetti, and
M G Marrosu, and
A Clerk, and
M Cau, and
R Congiu, and
A Cao, and
M A Melis
May 1990,
Journal of medical genetics,
F Muntoni, and
A Mateddu, and
C Cianchetti, and
M G Marrosu, and
A Clerk, and
M Cau, and
R Congiu, and
A Cao, and
M A Melis
January 1995,
Revista de neurologia,
