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Can I read LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype on EtoBox?
LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype by M. Schwartz; J. M. Hertz; M. L. Sveen; J. Vissing is a Medicine article available to read on EtoBox.
What is LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype about?
LGMD type 2I, caused by mutations in the fukutin-related protein, is a common form of LGMD. The phenotype resembles Duchenne/Becker muscular dystrophy. A point mutation, L276I has been found in all patients with LGMD2I studied so far. The authors screened for this mutation in 102 sporadic cases of Duchenne/Becker mutation-negative patients and found 13 patients with LGMD2I.
Who reads LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype?
It is typically read by researchers, students, and practitioners in Medicine.
- Author
- M. Schwartz; J. M. Hertz; M. L. Sveen; J. Vissing
- Publisher
- Lippincott Williams and Wilkins; Ovid Technologies (Wolters Kluwer) - American Academy of Neurology; Lippincott Williams & Wilkins Ltd.; Ovid Technologies (Wolters Kluwer Health) (ISSN 0028-3878)
- Published
- 2005
- Language
- EN
- Field
- Medicine (Health Sciences)