Infantile autophagic vacuolar myopathy is distinct from danon disease

Neurology

Volumn 57, Issue 5, 2001, Pages 903-905

  Yamamoto, A ^a   Morisawa, Y ^b   Verloes, A ^c   Murakami, N ^a,e   Hirano, M ^d   Nonaka, I ^a   Nishino, Ichizo ^a  

^a NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^b KOCHI MEDICAL SCHOOL   (Japan)

^c UNIVERSITY OF LIÈGE   (Belgium)

^d Och Spine at New York Presbyterian Hospitals   (United States)

^e DOKKYO MEDICAL UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENT MEMBRANE ATTACK COMPLEX; LYSOSOME ASSOCIATED MEMBRANE PROTEIN 2; MEMBRANE PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CLINICAL EXAMINATION; COMPLEMENT DEPOSITION; DANON DISEASE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; INFANTILE AUTOPHAGIC VACUOLAR MYOPATHY; MALE; MUSCLE BIOPSY; MYOPATHY; NEWBORN; PRESCHOOL CHILD; PRIORITY JOURNAL; SYNDROME DELINEATION;

EID: 0035845703     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.57.5.903     Document Type: Article

References (8)

1. Lysosomal glycogen storage disease with normal acid maltase
2. X-linked myopathy with excessive autophagy: A new hereditary muscle disease
3. X-linked vacuolated myopathy: Complement membrane attack complex on surface membrane of injured muscle fibers
4. Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)
5. Nosology of lysosomal glycogen storage diseases without in vitro acid maltase deficiency: Delineation of a neonatal form
6. Lysosomal glycogen storage disease with normal acid maltase with early fatal outcome
7. Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28
8. X-linked vacuolar myopathies: Two separate loci and refined genetic mapping