Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
3080873 | Neuromuscular Disorders | 2008 | 8 Pages |
Abstract
This is a report of a family with four members affected with Danon disease and variable clinical presentations, including cardiomyopathy, skeletal muscle pathology, and hepatopathy. Analysis by electron microscopy of the quadriceps muscle from the proband and his brother showed abnormal mitochondria, and immunohistochemistry revealed no expression of LAMP-2 protein. This defect is due to a yet undescribed mutation located at the second nucleotide in the intron 8 of the Lamp-2 gene (c.1093+2 T>A) that generated exon 8 skipping confirmed at RNA level in the proband.
Keywords
Related Topics
Life Sciences
Neuroscience
Developmental Neuroscience
Authors
T. Tuñón, D. Guerrero, A. Urchaga, I. Nishino, T. Ayuso, Y. Matsuda, M.C. Caballero, J. Berjón, M.A. Imizcoz,