Nemaline myopathy: Description of an adult onset case

Journal of Submicroscopic Cytology and Pathology

Volumn 34, Issue 1, 2002, Pages 105-108

  Ginanneschi, F ^a   Mondelli, M ^b   Malandrini, A ^a   Gambelli, S ^a   Dotti, M T ^a   Federico, A ^a  

^a UNIVERSITY OF SIENA   (Italy)

^b EMG Service ASL 7   (Italy)

Author keywords

Congenital myopathy; Myopathy; Nemaline; Rods

Indexed keywords

AGED; ARTICLE; CASE REPORT; DIFFERENTIAL DIAGNOSIS; FEMALE; GAIT DISORDER; HUMAN; MUSCLE BIOPSY; MUSCLE CRAMP; MUSCLE WEAKNESS; MYALGIA; NEMALINE MYOPATHY; ULTRASTRUCTURE; PATHOLOGY; SKELETAL MUSCLE;

POMACANTHUS MACULOSUS;

AGED; DIAGNOSIS, DIFFERENTIAL; FEMALE; HUMANS; MUSCLE, SKELETAL; MYOPATHIES, NEMALINE;

EID: 0036365746     PISSN: 11229497     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (33)

1. BROWNELL A.K.W., GILBERT J.J., SHAW D.T., GARCIA B., WENKEBACH G.F. and LAM A.K.S., 1978. Adult onset nemaline myopathy. Neurology, 28, 1306-1309.
2. CABELLO A., MARTINEZ-MARTIN P., GUTIERREZ-RIVAS E. and MADERO S., 1990. Myopathy with nemaline structures associated with HIV infection. J. Neurol., 237, 64-66.
3. CAPE C.A., JOHNSON W.W. and PITNER S.E., 1970. Nemaline structures in polymyositis: a non specific pathologic reaction of skeletal muscles. Neurology, 20, 245-252.
4. CONEN P.E., MURPHY E.G. and DONOHUE W.L., 1963. Light and electron microscopic studies of 'myogranules' in a child with hypotonia and muscle weakness. Can. Med. Assoc., 89, 983-986.
5. DALAKAS M.C., 1987. Progressive nemaline (rods) myopathy associated with HIV infection. N. England J. Med., 317, 1602-1603.
6. DWYER B.A., MAYER R.F. and LEE S.C., 1992. Progressive nemaline (rod) myopathy as a presentation of human immunodeficiency virus infection. Arch. Neurol., 49, 440.
7. ENGEL A.G., 1966. Late-onset rod myopathy (a new syndrome?): light and electron microscopic observation in two cases. Mayo Clin. Proc., 41, 713-741.
8. ENGEL W.K. and RESNICK J.S., 1966. Late-onset rod myopathy: a newly recognized, acquired, and progressive disease. Neurology, 16, 308-309.
9. ENGEL W.K. and OBERC M.A., 1975. Abundant nuclear rods in adult-onset rod disease. J. Neuropathol. Exp. Neurol., 34, 119-130.
10. EYMARD B., BROUET J.C., CHEVALLAY M., BUSSEL A. and FARDEAU M., 1993. Late-onset rod myopathy associated with monoclonal gammopathy. Neuromusc. Disord., 3, 557-560.
11. GONZALES M.F., OLNEY R. and So Y.T., 1988. Subacute structural myopathy associated with human immunodeficiency virus infection. Arch. Neurol., 45, 585-587.
12. GREENWOOD S.M. and Viozzi F.J., 1978. Nemaline myopathy. Arch. Pathol. Lab. Med , 102, 196-200.
13. KAMIENIECKA Z., 1973. Late onset myopathy with rod-like particles Acta Neurol. Scand , 49, 547-551.
14. KIMBERLY A., GYURE M.D., RICHARD A., PRAYSON M.D., MELINDA L. and ESTES M.D., 1997. Adult onset nemaline myopathy. A case report and review of the literature. Arch. Pathol. Lab. Med., 121, 1210-1213.
15. KONNO H., IWASAKI Y., YAMAMOTO T. and INOSAKA T., 1987. Nemaline bodies in spinal progressive muscular atrophy. Acta Neuropathol., 74, 84-88.
16. KULA R.W., SHER J.H., SHAFIQ S.A. and LAPOVSKY A.J., 1978. Adult onset rod disease: late occurrence with dementia. J. Neuropathol. Exp. Neurol., 37, 646.
17. LAING N.G., MAJDA B.T., AKKARI P.A., LAYTON M.G., MULLEY J.C., PHILLIPS H., HAAN E.A. WHITE S.G., BEGGS A.H., KUNKEL L.M., GROTH D.M., BOUNDY K.L., KNEEBONE C.S., BLUMBERG P.C., WILTON S.D., SPEER M.C. and KAKULAS B.A., 1992. Assignment of a gene (NEM1) for autosomal dominant nemaline myopathy to chromosome 1. Am. J. Hum. Genet., 50, 576-583.
18. LOMEN-HOERT C., SIMMON M.L., DE ARMOND S.J. and LAYZER R.B., 1999. Adult-onset nemaline myopathy; another cause of dropped head. Muscle Nerve, 22, 1146-1150.
19. MARTINEZ A.J., HOOSHMAND H. and FARIS A.A., 1973. Acute alcoholic myopathy: enzyme histochemistry and electron microscope findings. J. Neurol. Sci., 20, 245-252.
20. MAYTAL J., HOROWITZ S., LIPPER S., POIESZ B., WANG C.J. and SIEGAL S.P., 1993. Progressive nemaline rod myopathy in a woman coinfected with HIV-1 and HTLV-2. Mt. Sinai J. Med., 60, 242-246.
21. MEIER C., VOELLMY W., GERTSH M., ZIMMERMAN A. and GEISSBUHLER J., 1984. Nemaline myopathy appearing in adults as cardiomyopathy. A clinicopathologic study. Arch. Neurol., 41, 443-445.
22. NONAKA I., ISHIURA S., ARAHATA K., ISHIBASHI-UEDA K., MARUYAMA T. and II K., 1989. Progression in nemaline myopathy. Acta Neuropathol., 78, 484-491.
23. PALMUCCI L., DORIGUZZI G., MONGINI T. and CHIADO-PAT L., 1993. Adult onset nemaline myopathy: a distinct nosologic entity?. Cl Neuropathol., 12, 153-155.
24. PAULUS W., PEIFFER J., BECKER I., ROGGENDORF W. and SCHUMM F., 1988. Adult onset rod disease with abundant intranuclear rods. J. Neurol., 235, 343-347.
25. REYES M.G., TAM A., ABRAHAMSON D. and SCHWARTZ M., 1986. Nemaline myopathy in an adult with primary hypothyroidism. Can. J. Neurol. Sci., 13, 117-119.
26. SHY G.M., ENGEL W.K., SOMERS J.E. and WANKO T., 1963. Nemaline myopathy. A new congenital myopathy. Brain, 86, 793-810.
27. SIMPSON D.M. and BENDER A.N., 1988. Human immunodeficiency virus-associated myopathy: analysis of 11 patients. Ann. Neurol., 24, 79-84.
28. STOESSL A.J., HAHN A.F., MALOTT D., JONES D.T. and SILVER M.D., 1985. Nemaline myopathy with associated cardiomyopathy. Report of clinical and detailed autopsy findings. Arch. Neurol., 42, 1084-1086.
29. TAN P., BRINER J., BOLTSHAUSER E., NORTH K., DAVIS M.R., WALLGREN-PETTERSSON C. and LAING N.G., 1997. Homozygosity for a nonsense mutation in the alpha-tropomyosin gene TPM3 in a patient with severe congenital nemaline myopathy. Second Congress of the World Muscle Society, Tunis, 16-18 October 1997. Neuromusc. Disord., 7, 427-428.
30. THOMAS P.K. and SCHOTT G.D., 1975. Adult onset scapulo peroneal myopathy. J. Neurol. Neurosurg. Psychiatry, 38, 1008.
31. WALLGREN-PETTERSSON C., AVELA K., MARCHAND S., KOLEHMAINEN J., TAHVANAINEN E., JUUL HANSEN F., MUNTONI F., DUBOWITZ V., DE VISSER M., VAN LANGEN I.M., LAING N.G., FAURÉ S. and DE LA CHAPELLE A., 1995. A gene for autosomal recessive nemaline myopathy assigned to chromosome 2q by linkage analysis. Neuromusc. Disord., 5, 441-443.
32. WALLGREN-PETTERSSON C. and LAING N.G., 1996. Workshop report: 40th ENMC international workshop: nemaline myopathy. 2-4 February 1996, Naarden, The Netherlands. Neuromusc. Disord., 6, 389-391.
33. WALLGREN-PETTERSSON C., PELIN K., HILPELA P., DONNER K., PORFIRIO B., GRAZIANO C., SWOBODA K.J., FARDEAU M., URTIZBEREA A., MUNTONI F., SEWRY C., DUBOWITZ V., IANNACONE S., MINETTI C., LAMMENS M., SLOANE A.C., BEGGS A.H., LAING N.G. and DE LA CHAPELLE A., 1999. Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy. Neuromusc. Disord., 9, 564-572.