X‐Linked myopathy with excessive autophagy: A new hereditary muscle disease

Annals of Neurology

Volumn 23, Issue 3, 1988, Pages 258-265

  Kalimo, Hannu ^a   Savontaus, Marja‐Liisa ^a   Lang, Heikki ^a   Paljärvi, Leo ^a   Sonninen, Vesa ^b   Dean, Peter B ^c   Katevuo, Kalevi ^c   Salminen, Antero ^a  

^a UNIVERSITY OF JYVÄSKYLÄ   (Finland)

^b UNIVERSITY OF TURKU   (Finland)

^c KUOPIO UNIVERSITY HOSPITAL   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; AUTOPHAGY; CASE REPORT; EXOCYTOSIS; HEREDITY; HUMAN; MALE; MUSCLE BIOPSY; MYOPATHY; PRIORITY JOURNAL; SCHOOL CHILD;

ADULT; AUTOPHAGOCYTOSIS; BIOPSY; CASE REPORT; GENES, RECESSIVE; HUMAN; LINKAGE (GENETICS); MALE; MICROSCOPY, ELECTRON; MUSCLE HYPOTONIA; MUSCLES; MUSCULAR ATROPHY; PEDIGREE; PHAGOCYTOSIS; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; SEX CHROMOSOME ABERRATIONS; SUPPORT, NON-U.S. GOV'T; TOMOGRAPHY, X-RAY COMPUTED; X CHROMOSOME;

EID: 0023832274     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.410230308     Document Type: Article

References (31)

1. Hereditary myopathy with enhanced autophagy
2. Hereditary myopathy with increased autophagy
3. Lysosomal and nonlysosomal hydrolases of skeletal muscle in neuromuscular diseases
4. Becker‐type muscular dystrophy
5. X‐linked scapuloperoneal syndrome
6. X‐linked recessive myotubular myopathy: 1. Clinical and pathologic findings in a family
7. Acid maltase deficiency in adults: studies in four cases of a syndrome which may mimic muscular dystrophy or other myopathies
8. The adult form of acid maltase (α‐1, 4 glucosidase) deficiency
9. Lysosomal glycogen storage disease with normal acid maltase
10. Lysosomal glycogen storage disease without acid maltase deficiency
11. Dominantly inherited cardioskeletal myopathy with lysosomal glycogen storage and normal acid maltase levels
12. Cardiomyopathy, mental retardation and autophagic vacuolar myopathy
13. Nuclear inclusion in oculopharyngeal dystrophy
14. Distal myopathy: electron microscopic and histochemical studies
15. Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation
16. Autosomal recessive distal muscular dystrophy: a comparative study with distal myopathy with rimmed vacuole formation
17. Rimmed vacuolar distal myopathy: a clinical, electrophysiological, histopathological and computed tomographic study of seven cases
18. Rimmed vacuolar distal myopathy. An ultrastructural study
19. Inclusion body myositis: a distinct variety of idiopathic inflammatory myopathy
20. Chloroquine myopathy
21. Vacuolar myopathy associated with chloroquine, lupus erythematosus and thymoma. Report of a case with unusual mitochondrial changes and lipid accumulation in muscle
22. Epsilon aminocaproic acid (EACA) myopathy
23. The early changes in experimental myopathy induced by chloroquine and chlorphentermine
24. The effect of vincristine on skeletal muscle in the rat: a correlative histochemical, ultrastructural and chemical study
25. Autophagic response to strenuous exercise in mouse skeletal muscle fibers
26. Ultrastructural changes in diseased muscles
27. Carrier detection in Duchenne muscular dystrophy using computed tomography