Danon disease: A novel Lamp - 2 gene mutation in a family with four affected members

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 mit...

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Bibliographic Details
Published in:Neuromuscular disorders : NMD 2008-02, Vol.18 (2), p.167-174
Main Authors: Tuñón, T, Guerrero, D, Urchaga, A, Nishino, I, Ayuso, T, Matsuda, Y, Caballero, M.C, Berjón, J, Imizcoz, M.A
Format: Article
Language:English
Subjects:
Adolescent
Adult
Autophagic vacuoles
Biopsy
Cardiomyopathy
Danon disease
Family Health
Female
Glycogen Storage Disease Type IIb - genetics
Glycogen Storage Disease Type IIb - pathology
Humans
Introns - genetics
Lamp-2 gene mutation
LAMP2 deficiency
Lysosomal Membrane Proteins - genetics
Lysosomal-Associated Membrane Protein 2
Male
Microscopy, Electron
Myocardium - pathology
Myocardium - ultrastructure
Neurology
Pedigree
Quadriceps Muscle - pathology
Quadriceps Muscle - ultrastructure
Siblings
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Summary: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.
ISSN:0960-8966
1873-2364
DOI:10.1016/j.nmd.2007.09.008