These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: [A case of Down syndrome complicated with Becker muscular dystrophy].
    Author: Sakai K, Kojima S, Matsumura T, Takagi A, Arahata K.
    Journal: Rinsho Shinkeigaku; 1993 Nov; 33(11):1201-3. PubMed ID: 8124883.
    Abstract:
    A 22-year-old man with Down syndrome had a history of progressive muscular wasting which began at the age of 12 years. Serum CK level was elevated to 545 U/l (normal < 150) and muscle CT scan revealed patchy low density areas in the proximal muscles. A muscle biopsy specimen revealed marked dystrophic changes with patchy immunostaining for dystrophin. Multiplex PCR analysis of the genomic DNA extracted from peripheral blood lymphocytes disclosed a deletion of exons 45-47 of the dystrophin gene, confirming a diagnosis of Becker muscular dystrophy (BMD). This is the first report of Down syndrome complicated with BMD. Careful observation is required in detecting a coexistence of myopathy in mentally retarded patients.
    [Abstract] [Full Text] [Related] [New Search]