Duchenne muscular dystrophy
- Muscular dystrophy, Duchenne
- Muscular dystrophy, pseudohypertrophic progressive, Duchenne type
- Severe dystrophinopathy, Duchenne type
Your QuestionI am the parent of a 10-year-old boy with Duchenne muscular dystrophy (DMD). We are seeking information on his specific mutation, he is missing 2 nucleotides on exon 44 causing a frameshift onto exon 45 resulting in mild DMD or severe Becker symptoms. We can't locate any other person with that specific mutation. We have used the Leiden Data Base and Duchenne Connect, and we have asked an expert at the University of Utah. We are trying to determine the potential course this disease will take. Can you offer any suggestions as to how we can find out if another person has the same mutation?
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You can also find journal articles that report DMD mutations through a service called PubMed, a searchable database of medical literature. Some articles are available for free, while most other articles have a summary (abstract) available. To obtain the full article, contact a medical/university library or your local library for interlibrary loan. You can also purchase most articles online using the link publisher's Web site. Using "Duchenne muscular dystrophy mutations" as your search term should locate articles. To narrow your search, enter more specific information on your son's mutation or click on the “Limits” tab under the search boxand select your criteria.
The National Library of Medicine (NLM) Web site has a page for locating libraries in your area that can provide direct access to these journals (print or online). The Web page also describes how you can get these articles through interlibrary loan and Loansome Doc (an NLM document-ordering service). You can access this page at the following link http://nnlm.gov/members/. You can also contact the NLM toll-free at 888-346-3656 to locate libraries in your area.