carrier detection of duchenne muscular dystrophy (dmd) in females using real time pcr

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...

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...

Symptomatic therapy of Duchenne Muscular Dystrophy (DMD)

DMD certainly has a remarkable position amongst all hereditary muscle disorders. Noteworthy is its relatively high incidence as a " rare disease " , its X-chromosomal mode of inheritance, the high frequency of new mutations , as well as its relatively rapid and fatal course. For a century the disorder was considered to be untreatable. Only 40 years ago the patients' " natural " age at death was...

Lymphocyte capping and carrier detection in Duchenne muscular dystrophy.

Detection of the Duplication in Exons 56-63 of Duchenne Muscular Dystrophy Patients with MLPA

Background Duchenne Muscular Dystrophy (DMD) is a deadly X-linked recessive disorder. This genetic disorder affects 1 among 3,500-5,000 males in the world. The majority of the patients are male, due to the type of inheritance. It affects most of the skeletal, the respiratory, and cardiac muscles, causing these vital organs to contract and eventually mortality.<br...