Danon disease: a phenotypic expression of LAMP-2 deficiency

Acta Neuropathologica

Volumn 129, Issue 3, 2015, Pages 391-398

  Endo, Yukari ^a,b   Furuta, Akiko ^c   Nishino, Ichizo ^a,b  

^a NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

^b NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^c JUNTENDO UNIVERSITY   (Japan)

Author keywords

Autophagic vacuolar myopathy; Autophagy; Cardiomyopathy; LAMP2; Lysosome

Indexed keywords

LYSOSOME ASSOCIATED MEMBRANE PROTEIN 2; MICROTUBULE ASSOCIATED PROTEIN 1; LAMP2 PROTEIN, HUMAN;

AUTOPHAGOSOME; CLINICAL FEATURE; COGNITIVE DEFECT; DANON DISEASE; GENE STRUCTURE; HEART MUSCLE; HISTOPATHOLOGY; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; INTELLECTUAL IMPAIRMENT; LOSS OF FUNCTION MUTATION; MEYNERT BASAL NUCLEUS; MOLECULAR PATHOLOGY; MYOPATHY; NEUROPATHOLOGY; NONHUMAN; OPEN READING FRAME; PATHOPHYSIOLOGY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN LOCALIZATION; PROTEIN STRUCTURE; REVIEW; SKELETAL MUSCLE; X CHROMOSOME DOMINANT INHERITANCE; AUTOPHAGY; GENETICS; PATHOLOGY;

AUTOPHAGY; GLYCOGEN STORAGE DISEASE TYPE IIB; HUMANS; LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2; PHENOTYPE;

EID: 84925521323     PISSN: 00016322     EISSN: 14320533     Source Type: Journal    
DOI: 10.1007/s00401-015-1385-4     Document Type: Review

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