Danon disease and related disorders

Acta Myologica

Volumn 20, Issue SEPT., 2001, Pages 120-124

  Nishino, I ^a   Yamamoto, A ^a   Sugie, K ^a   Hirano, M ^a   Nonaka, I ^a  

^a NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

Author keywords

Autophagic vacuolar myopathy; Basal lamina; Lysosomal myopathy

Indexed keywords

CELL PROTEIN; GLUCAN 1,4 ALPHA GLUCOSIDASE; LYSOSOME ASSOCIATED MEMBRANE PROTEIN; UNCLASSIFIED DRUG;

AUTOPHAGIC VACOULAR MYOPATHY; AUTOPHAGY; BASEMENT MEMBRANE; CONFERENCE PAPER; DANON DISEASE; ENZYME DEFICIENCY; GENETIC ANALYSIS; GENETIC CODE; GLYCOGEN STORAGE DISEASE TYPE 2; HISTOPATHOLOGY; HUMAN; LYSOSOME; MYOPATHY; X CHROMOSOMAL INHERITANCE;

EID: 0035670867     PISSN: 11282460     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Conference Paper

References (16)

1. Lysosomal glycogen storage disease with normal acid maltase
2. Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)
3. Two human lysosomal membrane glycoproteins, h-lamp-1 and h-lamp-2, are encoded by genes localized to chromosome 13q34 and chromosome Xq24-25, respectively
4. Accumulation of autophagic vacuoles and cardiomyopathy in LAMP-2-deficient mice
5. Familial cardiomyopathy, mental retardation and myopathy associated with desmin-type intermediate filaments
6. Sarcolemmal indentation in cardiomyopathy with mental retardation and vacuolar myopathy
7. Biogenesis of the lysosomal membrane
8. An alternatively spliced form of the human lysosome-associated membrane protein-2 gene is expressed in a tissue-specific matter
9. The genes of major lysosomal membrane glycoproteins, lamp-1 and lamp-2. The 5′-flanking sequence of lamp-2 gene and comparison of exon organization in two genes
10. X-linked myopathy with excessive autophagy: A new hereditary muscle disease
11. X-linked vacuolated myopathy: Complement membrane attack comples on surface membrane of injured muscle fibers
12. Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28
13. X-linked vacuolar myopathies: Two separate loci and refined genetic mapping
14. Nosology of lysosomal glycogen storage diseases without in vitro acid maltase deficiency. Delineation of a neonatal form
15. Lysosomal glycogen storage disease with normal acid maltase with early fatal outcome
16. Infantile autophagic vacuolar myopathy is distinct from Danon disease