Cardiac autophagic vacuolation in severe X-linked myopathy with excessive autophagy

Neuromuscular Disorders

Volumn 27, Issue 2, 2017, Pages 185-187

  Munteanu, Iulia ^a   Kalimo, Hannu ^b   Saraste, Antti ^c   Nishino, Ichizo ^d   Minassian, Berge A ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b UNIVERSITY OF HELSINKI   (Finland)

^c TURKU UNIVERSITY HOSPITAL   (Finland)

^d NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

Author keywords

Acidification; Autophagy; CAVM; Congenital; LAMP2; Lysosome; XMEA

Indexed keywords

PROTON PUMP; UNCLASSIFIED DRUG; V-ATPASE; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE; VMA21 PROTEIN, HUMAN;

ACIDIFICATION; ARTICLE; ASSISTED VENTILATION; AUTOPHAGY; CARDIAC AUTOPHAGIC VACUOLATION; CARDIAC MUSCLE; CASE REPORT; CELL VACUOLE; CHILD; DISEASE SEVERITY; GENE MUTATION; HEART DISEASE; HUMAN; INFANT; MALE; MUSCLE ATROPHY; MYOPATHY; PRESCHOOL CHILD; SKELETAL MUSCLE; VMA21 GENE; X CHROMOSOME LINKED DISORDER; X-LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY; FATALITY; GENETICS; MUSCLE DISEASE; PATHOLOGY;

AUTOPHAGY; CHILD, PRESCHOOL; FATAL OUTCOME; GENETIC DISEASES, X-LINKED; HUMANS; MALE; MUSCULAR DISEASES; MYOCARDIUM; VACUOLAR PROTON-TRANSLOCATING ATPASES; VACUOLES;

EID: 85007488412     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2016.10.007     Document Type: Article

References (11)

1. [1] Saraste, A., Koskenvuo, J.W., Airaksinen, J., et al. No cardiomyopathy in X-linked myopathy with excessive autophagy. Neuromuscul Disord 25 (2015), 485–487.
2. [2] Kalimo, H., Savontaus, M.L., Lang, H., et al. X-linked myopathy with excessive autophagy: a new hereditary muscle disease. Ann Neurol 23 (1988), 258–265.
3. [3] Ramachandran, N., Munteanu, I., Wang, P., et al. VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy. Acta Neuropathol 125 (2013), 439–457.
4. [4] Chabrol, B., Figarella-Branger, D., Coquet, M., et al. X-linked myopathy with excessive autophagy: a clinicopathological study of five new families. Neuromuscul Disord 11 (2001), 376–388.
5. [5] Villanova, M., Louboutin, J.P., Chateau, D., et al. X-linked vacuolated myopathy: complement membrane attack complex on surface membrane of injured muscle fibers. Ann Neurol 37 (1995), 637–645.
6. [6] Ruggieri, A., Ramachandran, N., Wang, P., et al. Non-coding VMA21 deletions cause X-linked myopathy with excessive autophagy. Neuromuscul Disord 25 (2015), 207–211.
7. [7] Munteanu, I., Ramachandran, N., Ruggieri, A., Awaya, T., Nishino, I., Minassian, B.A., Congenital autophagic vacuolar myopathy is allelic to X-linked myopathy with excessive autophagy. Neurology 84 (2015), 1714–1716.
8. [8] Morisawa, Y., Fujieda, M., Murakami, N., et al. Lysosomal glycogen storage disease with normal acid maltase with early fatal outcome. J Neurol Sci 160 (1998), 175–179.
9. [9] Yamamoto, A., Morisawa, Y., Verloes, A., et al. Infantile autophagic vacuolar myopathy is distinct from Danon disease. Neurology 57 (2001), 903–905.
10. [10] Malkus, P., Graham, L.A., Stevens, T.H., Schekman, R., Role of Vma21p in assembly and transport of the yeast vacuolar ATPase. Mol Biol Cell 15 (2004), 5075–5091.
11. [11] Endo, Y., Furuta, A., Nishino, I., Danon disease: a phenotypic expression of LAMP-2 deficiency. Acta Neuropathol 129 (2015), 391–398.