Carrier detection in Duchenne muscular dystrophy

Carrier detection in Duchenne muscular dystrophy.

Serum creatine kinase, myoglobin, and percentage lymphocyte capping was determined in ten patients with Duchenne muscular dystrophy, 12 carriers (nine definite and three probable), 16 other female relatives, and eight normal controls. There was no detectable difference in lymphocyte capping ability between any of these clinical groups. Significant myoglobinaemia was present in all the affected ...

Carrier detection in Duchenne muscular dystrophy

Sir, I read with interest the paper by Mollica et al.1 and should like to add the results of our prospective study for comparison with other Mediterranean countries on 37 HBsAg mothers who were found among 1002 pregnant women attending a maternity hospital. Although 3.7% of the mothers were positive for HBsAg, only in 0. 1 % of cord blood specimens was HBsAg demonstrable by counter electrophore...

Lymphocyte capping and carrier detection in Duchenne muscular dystrophy.

Carrier detection in Duchenne muscular dystrophy using molecular methods

BACKGROUND & OBJECTIVES Duchenne and Becker muscular dystrophies are X-linked allelic disorders which are caused by mutations in the DMD gene. Carrier analysis in DMD is complicated due to the heterozygous nature of the X chromosome. Several techniques have been tried for carrier analysis in families where the mutation is identified including quantitative multiplex PCR (qmPCR), Southern blot, a...

Non-Invasive Biomarkers for Duchenne Muscular Dystrophy and Carrier Detection.

Non-invasive biological indicators of the absence/presence or progress of the disease that could be used to support diagnosis and to evaluate the effectiveness of treatment are of utmost importance in Duchenne Muscular Dystrophy (DMD). This neuromuscular disorder affects male children, causing weakness and disability, whereas female relatives are at risk of being carriers of the disease. A biom...