Tubular Aggregate Myopathy : A Case Report

Journal of Korean Medical Science

Volumn 18, Issue 1, 2003, Pages 135-140

  Kim, Na Rae ^a   Suh, Yeon Lim ^a,b  

^a Sungkyunkwan University School of Medicine   (South Korea)

^b Samsung Medical Center   (South Korea)

Author keywords

Dominant; Genes; Muscular Diseases; Sarcoplasmic Reticulum; Tubular Aggregates

Indexed keywords

EOSIN; HEMATOXYLIN; NICOTINAMIDE ADENINE DINUCLEOTIDE; TETRAZOLIUM REDUCTASE;

ADULT; ANAMNESIS; ARTICLE; CASE REPORT; CELL VACUOLE; CLINICAL FEATURE; DISEASE COURSE; ELECTROMYOGRAM; HEREDITY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; KOREA; LABORATORY TEST; MALE; MUSCLE BIOPSY; MUSCLE STIFFNESS; MUSCLE WEAKNESS; MYOPATHY; SARCOLEMMA; STAINING; ULTRASTRUCTURE; BIOPSY; DOMINANT GENE; ELECTRON MICROSCOPY; FROZEN SECTION; GENETICS; MICROTUBULE; MUSCLE MITOCHONDRION; PATHOLOGY; PEDIGREE; RECESSIVE GENE; REVIEW; SKELETAL MUSCLE;

ADULT; BIOPSY; FROZEN SECTIONS; GENES, DOMINANT; GENES, RECESSIVE; HUMANS; KOREA; MALE; MICROSCOPY, ELECTRON; MICROTUBULES; MITOCHONDRIA, MUSCLE; MUSCLE, SKELETAL; MYOPATHIES, STRUCTURAL, CONGENITAL; PEDIGREE;

EID: 0141889602     PISSN: 10118934     EISSN: None     Source Type: Journal    
DOI: 10.3346/jkms.2003.18.1.135     Document Type: Article

References (22)

1. de Groot JG, Arts WF. Familial myopathy with tubular aggregates. J Neurol 1982; 227: 35-41.
2. Rohkamm R, Boxler K, Ricker K, Jerusalem F. A dominantly inherited myopathy with excessive tubular aggregates. Neurology 1983; 33: 331-6.
3. Pierobon-Bormiooli S, Arani M, Ringel SP, Angelini C, Vergani L, Betto R, Salviati G. Familial neuromuscular disease with tubular aggregates. Muscle Nerve 1985; 8: 291-8.
4. Salviati G, Pierobon-Bormioli S, Betto R, Damiani E, Angelini C, Ringel SP, Salvatori S, Margreth A. Tubular aggregates: sarcolemmal reticulum origin, calcium storage ability, and functional implications. Muscle Nerve 1985; 8: 299-306.
5. Cameron CH, Allen IV, Patterson V, Avaria MA. Dominantly inherited tubular aggregate myopathy. J Pathol 1992; 168: 397-403.
6. Martin JJ, Ceuterick C, Van Goethem G. On a dominantly inherited myopathy with tubular aggregates. Neuromuscul Disord 1997; 7: 512-20.
7. Bendahan D, Pouget J, Pellissier JF, Figarella-Branger D, Cozzone PJ. Magnetic resonance spectroscopy and histological study of tubular aggregates in a familial myopathy. J Neurol Sci 1996; 139: 149-55.
8. Muller HD, Vielhaber S, Brunn A, Schroder JM. Dominantly inherited myopathy with novel tubular aggregates containing 1-21 tubulofilamentous structures. Acta Neuropathol 2001; 102: 27-35.
9. Takizawa S, Ishihara T, Shinohara Y. A case of hypokalemic periodic paralysis with tubular aggregates in type 2A fibers and type 2B fibers Rinsho Shinkeigaku 1986; 26: 81-6 (Jpn).
10. Meyers KR, Gilden DH, Rinaldi CF, Hansen JL. Periodic muscle weakness, normokalemia, and tubular aggregates. Neurology 1972; 22: 269-79.
11. Sipila I, Simell O, Rapola J, Sainio K, Tuuteri L. Gyrate atrophy of the choroid and retina with hyperornithinemia: tubular aggregates and type 2 fiber atrophy in muscle. Neurology 1979; 29: 996-1005.
12. Dobkin BH, Verity MA. Familial neuromuscular disease with type I fiber hypoplasia, tubular aggregates, cardiomyopathy, and myasthenic features. Neurology 1978; 28: 1135-40.
13. Lazaro RP, Fenichel GM, Kilroy AW, Saito A, Fleischer S. Cramps, muscle pain, and tubular aggregates. Arch Neurol 1980; 37: 715-7.
14. Negro AV, Angulo M, Pomar JMR, Errasti CA. Tubular aggregates in skeletal muscle of chronic alcoholic patients. Acta Neuropathol 1982; 56: 250-4.
15. Doriguzzi C, Mongini T, Jeantet A, Monga G. Tubular aggregates in a case of osteomalacic myopathy due to anticonvulsant drugs. Clin Neuropathol 1984; 3: 42-5.
16. Alonso-Losada G, Cimas I, Pego R, La Torre P, Teijeira S, Navarro C. Isolated progressive muscle weakness with tubular aggregates. Clin Neuropathol 1998; 17: 50-4.
17. Cullen MF, Johnson MA, Mastaglia FL. Pathological reactions of skeletal muscle. In: Mastaglia FL, Walton JN, editors, Skeletal muscle pathology, 2nd edn, London: Churchill Livingstone 1992: 155.
18. Meijer AE. Histochemical features of tubular aggregates in diseased human skeletal muscle fibers. J Neurol Sci 1988; 86: 73-82.
19. Lewis PD, Pallis C, Pearse AG. "Myopathy" with tubular aggregates. J Neurol Sci 1971; 13: 381-8.
20. Thomas PK, Cooper JM, King RH, Workman JM, Schapira AH, Goss-Sampson MA, Muller DP. Myopathy in vitamin E deficient rats; muscle fiber necrosis associated with disturbances of mitochondrial function. J Anat 1993; 183: 451-61.
21. Niakan E, Harati Y, Danon MJ. Tubular aggregates: their association with myalgia. J Neurol Neurosurg Psychiatry 1985; 48: 882-6.
22. Martin JE, Mather K, Swash M, Gray AB. Expression of heat shock protein epitopes in tubular aggregates. Muscle Nerve 1991; 14: 219-25.