Saying NO to muscular dystrophy

Saying NO to muscular dystrophy

In This Issue In This Issue Saying NO to muscular dystrophy ccording to the prevailing model for Duchenne muscular dystrophy (DMD) pathogenesis, a lack of dystrophin protein makes muscle cells susceptible to mechanical damage, leading to muscle breakdown. On page 123, Wehling et al. suggest that the major damage in DMD may actually be caused by a secondary consequence of dystrophin loss: destru...

Saying no to drugs

Illicit drug use, and the associated health problems, is a frequent issue encountered by medical providers. Because of its salience as a piece of health care information, drug use history is often included in patient charts and presentations by house staff and medical students. However, if used and recorded inappropriately, drug use history can have significant long-lasting effects on the perce...

No sex difference in mutations rates of Duchenne muscular dystrophy.

Segregation analysis was performed to evaluate possible differences in mutation rates in man. It was based on 514 males with Duchenne type muscular dystrophy (DMD) from five of nineteen hospitals for muscular disease in Japan. The estimated proportion of sporadic cases (new mutations) was 0.29 +/- 0.046, which is in excellent agreement with the expected 0.333 if there is no sex difference in mu...

congenital muscular dystrophy : an overview

congenital muscular dystrophy (cmd)  is an umbrella term collecting a heterogeneous groups of genetic disorders , mostly with autosomal recessive mode of inheritance , and are characterized by muscle weakness since birth or in early infancy , with a dystrophic pattern on muscle biopsy . these children are usually hypotonic and may have joint contractures . the serum creatine kinase level can be...

No evidence for heterogeneity in oculopharyngeal muscular dystrophy.