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...

Lymphocyte capping and carrier detection in Duchenne muscular dystrophy.

P164: Adeno-Associated Viral Vectors in Duchenne Muscular Dystrophy

Duchenne muscular dystrophy (BMD) is an inherited X-link disease. The incidence of this muscle-wasting disease is 1:5000 male live births. Mutation in the gene coding for dystrophin is the main cause of BMD. Most cases of this disease succumb to respiratory and cardiac failure in 3rd to 4th decades. The slow progression of BMD and recent achievement of gene therapies make it as an appropriate c...

Muscle ribosomal protein synthesis in normal pregnancy: implication for carrier detection in Duchenne muscular dystrophy.

Quantitative electromyography: carrier detection in Duchenne type muscular dystrophy using a new automatic technique.

An automated method of quantitating small electromyographic changes, based on the ratio of action potential duration to the number of phases per potential, was applied to carriers of X-linked Duchenne type muscular dystrophy. The ratio was found to be significantly raised in a proportion of these cases.