Autophagic vacuolar myopathy in twin girls

Neuropathology and Applied Neurobiology

Volumn 32, Issue 3, 2006, Pages 253-259

  Holton, J L ^a   Beesley, C ^b   Jackson, M ^c   Venner, K ^a   Bhardwaj, N ^a   Winchester, B ^b   Al Memar, A ^d  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^d ATKINSON MORLEY S HOSPITAL   (United Kingdom)

Author keywords

Autophagic vacuolar myopathy; Danon disease; Muscle biopsy; Ultrastructure; X linked myopathy with excessive autophagy

Indexed keywords

COMPLEMENT MEMBRANE ATTACK COMPLEX; CREATINE KINASE; DYSTROPHIN; GENOMIC DNA; GLUCAN 1,4 ALPHA GLUCOSIDASE; GLYCOGEN; LIPID; MEROSIN; SARCOGLYCAN; SPECTRIN;

ADOLESCENT; ARTICLE; AUTOPHAGIC VACUOLAR MYOPATHY; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; DANON DISEASE; ELECTROMYOGRAM; FEMALE; GENE; GENETIC DISORDER; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; IMMUNOHISTOCHEMISTRY; INFANTILE AUTOPHAGIC VACUOLAR MYOPATHY; KARYOTYPE; LAMP 2 GENE; LIMB WEAKNESS; LYMPHOCYTE; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE CONTRACTURE; NERVE CONDUCTION; NEUROLOGIC DISEASE; PRIORITY JOURNAL; SARCOLEMMA; SEQUENCE ANALYSIS; SKELETAL MUSCLE; TWINS; X LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY;

ADOLESCENT; AUTOPHAGY; CHILD; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; INCLUSION BODIES; INFANT, NEWBORN; LYSOSOME-ASSOCIATED MEMBRANE GLYCOPROTEINS; MICROSCOPY, ELECTRON, TRANSMISSION; MUSCLE, SKELETAL; MUSCULAR DISEASES; SARCOLEMMA; VACUOLES;

EID: 33646084182     PISSN: 03051846     EISSN: 13652990     Source Type: Journal    
DOI: 10.1111/j.1365-2990.2006.00691.x     Document Type: Article

References (19)

1. Nishino I. Autophagic vacuolar myopathies. Curr Neurol Neurosci Rep 2003 3 64 9
2. Engel AG Gomez MR Seybold ME Lambert EH. The spectrum and diagnosis of acid maltase deficiency. Neurology 1973 23 95 106
3. Nishino I Yamamoto A Sugie K Hirano M Nonaka I. Danon disease and related disorders. Acta Myologica 2001 20 120 4
4. Danon MJ Oh SJ DiMauro S Manaligod JR Eastwood A Naidu S Schliselfeld LH. Lysosomal glycogen storage disease with normal acid maltase. Neurology 1981 31 51 7
5. Murakami N Goto Y Itoh M Katsumi Y Wada T Ozawa E Nonaka I. Sarcolemmal indentation in cardiomyopathy with mental retardation and vacuolar myopathy. Neuromuscul Disord 1995 5 149 55
6. Sugie K Yamamoto A Murayama K Oh SJ Takahashi M Mora M Riggs JE Colomer J Iturriaga C Meloni A Lamperti C Saitoh S Byrne E DiMauro S Nonaka I Hirano M Nishino I. Clinicopathological features of genetically confirmed Danon disease. Neurology 2002 58 1773 8
7. Nishino I Fu J Tanji K Yamada T Shimojo S Koori T Mora M Riggs JE Oh SJ Koga Y Sue CM Yamamoto A Murakami N Shanske S Byrne E Bonilla E Nonaka I DiMauro S Hirano M. Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease). Nature 2000 406 906 10
8. Kalimo H Savontaus ML Lang H Paljarvi L Sonninen V Dean PB Katevuo K Salminen A. X-linked myopathy with excessive autophagy: a new hereditary muscle disease. Ann Neurol 1988 23 258 65
9. Villanova M Louboutin JP Chateau D Eymard B Sagniez M Tome FM Fardeau M. X-linked vacuolated myopathy: complement membrane attack complex on surface membrane of injured muscle fibers. Ann Neurol 1995 37 637 45
10. Auranen M Villanova M Muntoni F Fardeau M Scherer SW Kalino H Minassian BA. X-linked vacuolar myopathies: two separate loci and refined genetic mapping. Ann Neurol 2000 47 666 9
11. Minassian BA Aiyar R Alic S Banwell B Villanova M Fardeau M Mandell JW Juel VC Rafii M Auranen M Kalimo H. Narrowing in on the causative defect of an intriguing X-linked myopathy with excessive autophagy. Neurology 2002 59 596 601
12. Saviranta P Lindlof M Lehesjoki AE Kalimo H Lang H Sonninen V Savontaus ML de la Chapelle A. Linkage studies in a new X-linked myopathy, suggesting exclusion of DMD locus and tentative assignment to distal Xq. Am J Hum Genet 1988 42 84 8
13. Villard L des Portes V Levy N Louboutin JP Recan D Coquet M Chabrol B Figarella-Branger D Chelly J Pellissier JF Fontes M. Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28. Eur J Hum Genet 2000 8 125 9
14. Morisawa Y Fujieda M Murakami N Naruse K Okada T Morita H Sawada K Miyazaki J Kurashige T Nonaka I. Lysosomal glycogen storage disease with normal acid maltase with early fatal outcome. J Neurol Sci 1998 160 175 9
15. Verloes A Massin M Lombet J Grattagliano B Soyeur D Rigo J Koulischer L Van Hoof F. Nosology of lysosomal glycogen storage diseases without in vitro acid maltase deficiency. Delineation of a neonatal form. Am J Med Genet 1997 72 135 42
16. Yamamoto A Morisawa Y Verloes A Murakami N Hirano M Nonaka I Nishino I. Infantile autophagic vacuolar myopathy is distinct from Danon disease. Neurology 2001 57 903 5
17. Kaneda D Sugie K Yamamoto A Matsumoto H Kato T Nonaka I Nishino I. A novel form of autophagic vacuolar myopathy with late-onset and multiorgan involvement. Neurology 2003 61 128 31
18. De Bleecker JL Engel AG Winkelmann JC. Localization of dystrophin and beta-spectrin in vacuolar myopathies. Am J Pathol 1993 143 1200 8
19. Chabrol B Figarella-Branger D Coquet M Mancini J Fontan D Pedespan JM Francannet C Pouget J Beaufrere AM Pellissier JF. X-linked myopathy with excessive autophagy: a clinicopathological study of five new families. Neuromuscul Disord 2001 11 376 88