Overview of distal myopathies: From the clinical to the molecular

Neuromuscular Disorders

Volumn 8, Issue 5, 1998, Pages 309-316

  Barohn, Richard J ^a   Amato, Anthony A ^b   Griggs, Robert C ^c  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^b UNIVERSITY OF TEXAS HEALTH SCIENCE CENTER AT SAN ANTONIO   (United States)

^c UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

Author keywords

Distal; Myopathy; Vacuoles

Indexed keywords

GENE PRODUCT;

AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; BECKER MUSCULAR DYSTROPHY; CHROMOSOME 14; CHROMOSOME 2P; CHROMOSOME 2Q; CHROMOSOME 9P; CHROMOSOME 9Q; CONFERENCE PAPER; DISTAL MYOPATHY; DUCHENNE MUSCULAR DYSTROPHY; GENE LOCATION; GENETIC ASSOCIATION; HUMAN; HUMAN TISSUE; INCLUSION BODY MYOSITIS; MAJOR CLINICAL STUDY; MYOPATHY; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; QUADRICEPS FEMORIS MUSCLE; SYNDROME DELINEATION;

AGE OF ONSET; HUMANS; MUSCULAR DISEASES;

EID: 0031901171     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(98)00030-3     Document Type: Conference Paper

References (90)

1. Griggs RC, Markesbery WR. Distal myopathies. In: Engel A, Franzini-Armstrong C, editors. Myology, 2nd edn. New York: McGraw-Hill, 1994:1246-1257.
2. Welander L. Myopathia distalis tarda hereditaria. Acta Med Scand. 141(Suppl. 265):1951;1-124.
3. Barohn R.J. Distal myopathies and dystrophies. Semin Neurol. 13:1993;247-255.
4. Borg K., Borg J., Lindblom U. Sensory involvement in distal myopathy (Welander). J Neurol Sci. 80:1987;323-332.
5. Welander L. Homozygous appearance of distal myopathy. Acta Genet. 7:1957;321-325.
6. Dahlgaard E. Myopathia distalis tarda hereditaria. Acta Psychiatr Neurol Scand. 35:1960;440-447.
7. Barrows H.S., Duemler L.P. Late distal myopathy. Report of a case. Neurology. 12:1962;547-550.
8. Borg K., Tome F., Edström L. Intranuclear and cytoplasmic filamentous inclusions in distal myopathy (Welander). Acta Neuropathol. 82:1991;102-106.
9. Lindberg C., Borg K., Edström L.et al. Inclusion body myositis and Welander distal myopathy: a clinical, neurophysiological and morphological comparison. J Neurol Sci. 103:1991;76-81.
10. Borg K., Åhlberg G., Borg J., Edström L. Welander's distal myopathy: clinical, neurophysiological and muscle biopsy observations in young and middle aged adult with early symptoms. J Neurol Neurosurg Psychiatry. 54:1991;494-498.
11. Edström L. Histochemical and histopathological changes in skeletal muscle in late-onset hereditary distal myopathy (Welander). J Neurol Sci. 26:1975;147-157.
12. Borg K., Solders G., Borg J.et al. Neurogenic involvement in distal myopathy (Welander). J Neurol Sci. 91:1989;53-70.
13. Griggs R.C., Askanas V., DiMauro S.et al. Inclusion body myositis and myopathies. Ann Neurol. 38:1995;705-713.
14. Amato A.A., Barohn R.J. Idiopathic inflammatory myopathies. Neurol Clin. 15:1997;615-648.
15. Åhlberg G., Borg K., Edström L., Anvret M. Welander distal myopathy is not linked to other defined distal myopathy gene loci. Neuromusc Disord. 7:1997;256-260.
16. Sumner D, Crawfurd Md'A, Harriman DGF. Distal muscular dystrophy in an English family. Brain 1971;94:51-60.
17. Markesbery W.R., Griggs R.C., Leach R.P.et al. Late onset hereditary distal myopathy. Neurology. 23:1974;127-134.
18. Udd B., Kääriänen H., Somer H. Muscular dystrophy with separate clinical phenotypes in a large family. Muscle Nerve. 14:1991;1050-1058.
19. Udd B., Partanen J., Halonen P.et al. Tibial muscular dystrophy: late adult-onset distal myopathy in 66 Finnish patients. Arch Neurol. 50:1993;604-608.
20. Partanen J, Laulumaa V, Paljärve L., et al. Late onset foot-drop muscular dystrophy with rimmed vacuoles. J Neurol Sci 1994;125:158-167.
21. Haravuori H, Mskels-Bengs P, Figlewicz DA, et al. Tibial muscular dystrophy and late-onset distal myopathy are linked to the same locus on chromosome 2q (abstract). Neurology 1998;50:A186.
22. Murone I, Sato T, Shirakawa K, et al. Distal myopathy - a case of non-hereditary distal myopathy (in Japanese with English abstract). Clin Neurol (Tokyo) 1963;3:378-386.
23. Sasaki K., Mori H., Takahashi K.et al. Distal myopathy - report of four cases (in Japanese with English abstract). Clin Neurol (Tokyo). 9:1969;627-637.
24. Miyoshi K., Saijo K., Kuryu Y.et al. Four cases of distal myopathy in two families (abstract in Japanese). Jpn J Hum Genet. 12:1967;113.
25. Miyoshi K., Tada Y., Iwasa M.et al. Autosomal recessive distal myopathy observed characteristically in Japan (abstract in English). Jpn J Hum Genet. 20:1975;62-63.
26. Nonaka I., Sunohara N., Ishiura S.et al. Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation. J Neurol Sci. 51:1981;141-155.
27. Nonaka I., Sunohara N., Satoyoshi E.et al. Autosomal recessive distal muscular dystrophy: a comparative study with distal myopathy with rimmed vacuole formation. Ann Neurol. 17:1985;51-59.
28. Sunohara N., Nonaka I., Kamei N.et al. Distal myopathy with rimmed vacuole formation: a follow-up study. Brain. 112:1989;65-83.
29. Markesbery W.R., Griggs R.C., Herr B. Distal myopathy: electron microscopic and histochemical studies. Neurology. 27:1977;727-735.
30. Miller R.G., Blank N.K., Layzer R.B. Sporadic distal myopathy with early adult onset. Ann Neurol. 5:1979;220-227.
31. Krendel D., Gilchrist J., Bossen E. Distal vacuolar myopathy with complete heart block. Arch Neurol. 45:1988;698-699.
32. Isaacs H., Badenhorst M., Whistler T. Autosomal recessive distal myopathy. J Clin Pathol. 41:1988;188-194.
33. Scoppetta C., Vaccario M.L., Casali C.et al. Distal muscular dystrophy with autosomal recessive inheritance. Muscle Nerve. 7:1988;478-481.
34. Somer H. Distal myopathies: 25th ENMC international workshop. Neuromusc Disord. 5:1995;249-252.
35. Walton J.N., Nattras F.J. On the classification, natural history and treatment of the myopathies. Brain. 77:1954;169-231.
36. Mizusawa H., Kurisaki H., Takatsu M.et al. Rimmed vacuolar distal myopathy: a clinical, electrophysiological, histopathological and computed tomographic study of seven cases. J Neurol. 234:1987;129-136.
37. Sadeh M., Gadoth N., Hadar H.et al. Vacuolar myopathy sparing the quadriceps. Brain. 116:1993;217-232.
38. Sivakumar K., Dalakas M.C. The spectrum of familial inclusion body myopathies in 13 families and a description of a quadriceps-sparing phenotype in non-Iranian Jews. Neurology. 47:1996;977-984.
39. Argov Z., Yarom R. 'Rimmed vacuole myopathy' sparing the quadriceps: a unique disorder in Iranian Jews. J Neurol Sci. 64:1984;33-43.
40. Massa R., Weller W., Karpati G.et al. Familial inclusion body myositis among Kurdish-Iranian Jews. Arch Neurol. 48:1991;519-522.
41. Kumamota T., Fukuhara N., Naguishima M.et al. Distal myopathy: histochemical and ultrastructural studies. Arch Neurol. 51:1982;141-155.
42. Matsubara S., Tannabe H. Hereditary distal myopathy with filamentous inclusions. Acta Neurol Scand. 65:1982;363-368.
43. Mizusawa H., Kurisaki H., Takatsu M.et al. Rimmed vacuolar distal myopathy. An ultrastructural study. J Neurol. 234:1987;137-145.
44. Jongen P.J.H., Laak H.J.T., Stadhouders A.M. Rimed basophilic vacuoles and filamentous inclusions in neuromuscular disorders. Neuromusc Disord. 5:1995;31-38.
45. Amato A.A., Gronseth G.S., Jackson C.E.et al. Inclusion body myositis: clinical pathologic boundaries. Ann Neurol. 40:1996;581-586.
46. Askanas V. New developments in hereditary inclusion body myopathies. Ann Neurol. 41:1997;421-422.
47. Ikeuchi T., Asaka T., Saito M.et al. Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9. Ann Neurol. 41:1997;432-437.
48. Argov Z., Tiram E., Eisenberg I.et al. Hereditary inclusion body myopathy maps to chromosome 9p1-q1. Ann Neurol. 41:1997;548-551.
49. Miyoshi K., Kawai H., Iwasa M.et al. Autosomal recessive distal muscular dystrophy. Brain. 109:1986;31-54.
50. Kuhn E., Schroder M. A new type of distal myopathy in two brothers. J Neurol. 226:1981;181-185.
51. Alderson M.K., Ziter F. Distal muscular dystrophy (letter). Muscle Nerve. 8:1985;7235.
52. Galassi G., Rowland L.P., Hays A.et al. High serum levels of creatine kinase: asymptomatic prelude to distal myopathy. Muscle Nerve. 10:1987;346-350.
53. Barohn R.J., Miller R.G., Griggs R.C. Autosomal recessive distal dystrophy. Neurology. 41:1991;1365-1370.
54. Meola G., Sansone V., Rotondo G.et al. Computerized tomography and magnetic resonance muscle imaging in Miyoshi's myopathy. Muscle Nerve. 19:1996;1476-1480.
55. Cha C, Wolfe GI, Bryan WW, et al. Miyoshi myopathy in Hispanic siblings (abstract). J Child Neurol 1998;13:134.
56. Linssen W.H.J.P., Notermans N.C., Van der Graaf Y.et al. Miyoshi-type distal muscular dystrophy. Clinical spectrum in 24 Dutch patients. Brain. 120:1997;1989-1996.
57. Yamanouchi Y., Ozawa E., Nonaka I. Autosomal recessive distal muscular dystrophy: normal expression of dystrophin, utrophin and dystrophin-associated proteins in muscle fibers. J Neurol Sci. 126:1994;70-76.
58. Shaibani A., Harati Y., Amato A., Ferrante M. Miyoshi myopathy with vacuoles. Neurology. 47(Suppl.):1997;A195.
59. Bejaoui K., Hirabayashi K., Hentati F.et al. Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14. Neurology. 45:1995;768-772.
60. Bashir R., Strachan T., Keers S.et al. A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2. Hum Mol Genet. 3:1994;455-457.
61. Illarioshkin S.N., Ivanova-Smoleskaya I.A., Tanaka H.et al. Clinical and molecular analysis of a large family with 3 distinct phenotypes of progressive muscular dystrophy. Brain. 119:1996;1895-1909.
62. Illa I, Serrano C, Gallardo E, et al. Distal anterior compartment myopathy: a new severe dystrophic phenotype linked to chromosome 2p13 (abstract). Neurology 1998;50:A186.
63. Laing N.G., Laing B.A., Meredith C.et al. Autosomal dominant distal myopathy: linkage to chromosome 14. Am J Hum Genet. 56:1995;422-427.
64. Gowers W.R. A lecture on myopathy and a distal form. Br Med J. 2:1902;89-92.
65. Wilson SAK. Neurology, Vol. 2. London: Edward Arnold, 1940:982-983.
66. Gardner-Medwin D, Walton J. The muscular dystrophies. In: Walton J, Karpati G, Hilton-Jones D, editors. Disorders of Voluntary Muscle, 6th edn. Edinburgh: Churchill Livingston, 1994:580.
67. Scoppetta C., Casali C., La Cesa I.et al. Infantile autosomal dominant distal myopathy. Acta Neurol Scand. 92:1995;122-126.
68. Goebel H.H. Desmin-related neuromuscular disorders. Muscle Nerve. 18:1995;1306-1320.
69. Edström L., Thornell L.E., Eriksson A. A new type of hereditary distal myopathy with characteristic sarcoplasmic bodies and intermediate (Skeletin) filaments. J Neurol Sci. 47:1980;171-190.
70. Helliwell T.R., Green A.R.T., Green A.et al. Hereditary distal myopathy with granulo-filamentous cytoplasmic inclusions containing desmin, dystrophin and vimentin. J Neurol Sci. 124:1994;174-187.
71. Horowitz S., Schmalbruch H. Autosomal dominant distal myopathy with desmin storage: a clinicopathologic and electrophysiologic study of a large kinship. Muscle Nerve. 17:1994;151-160.
72. Muntoni F., Catani G., Mateddu A.et al. Familial cardiomyopathy, mental retardation and myopathy associated with desmin-type intermediate filaments. Neuromusc Disord. 4:1994;233-241.
73. Amato A.A., Ferrante M., Kagan-Hallet K., Barohn R. The spectrum of myofibrillary myopathy with accumulation of excess desmin (abstract). J Child Neurol. 12:1997;131-132.
74. Cameron C.H.S., Mirakhur M., Allen I.V. Desmin myopathy with cardiomyopathy. Acta Neuropathol. 89:1995;560-566.
75. Fardeau M, Tomé FMS. Congenital myopathies. In: Engel AG, Fanzini-Armstrong C, editors. Myology, 2nd edn. New York: McGraw-Hill, 1994:522-526.
76. Goebel H.H., Muller J., Gillen H.W., Merrit A.D. Autosomal dominant 'spheroidal body myopathy'. Muscle Nerve. 1:1978;14-26.
77. Caron A., Viaer F., Lechevalier B., Chapon F. Cytoplasmic body myopathy: familial cases with accumulation of desmin and dystrophin. An immunohistochemical, immunoelectron microscopic and biochemical study. Acta Neuropathol. 90:1995;150-157.
78. Fidzianska A., Goebel H.H., Osborn M., Lenard H.G., Osse G., Langenbeck U. Mallory body-like inclusions in a hereditary congenital neuromuscular disease. Muscle Nerve. 6:1983;195-200.
79. Calderon A., Becker L.E., Murphy E.G. Subsarcolemmal vermiform deposits in skeletal muscle associated with familial cardiomyopathy: report of two cases of a new entity. Pediatr Neurosci. 13:1987;108-113.
80. Fardeau M., Godet-Guillain J., Tom F.et al. Une nouvelle affection musculaire familiale, e finie par l'accumulation intrasarcoplasmique d'un mat riel graunulofilmentaire dense en microscopie lectronique. Rev Neurol. 134:1978;411-425.
81. Nakano S., Engel A.G., Waclwik A.J., Emslie-Smith A.M., Busis N.A. Myofibrillary myopathy with abnormal foci of desmin positivity. I. Light and electron microscopy analysis of 10 cases. J Neuropathol Exp Pathol. 55:1996;549-562.
82. Milhorat A.T., Wolff H.G. Studies in diseases of muscle. XII. Progressive muscular dystrophy of atrophic distal type; report on a family; report of an autopsy. Arch Neurol Psychiatry. 49:1943;655-664.
83. Wilhelmsen K.C., Blake D.M., Lynch T.et al. Chromosome 12-linked autosomal dominant scapuloperoneal muscular dystrophy. Ann Neurol. 39:1996;507-520.
84. DeBleecker J.L., Engel A.G., Ertl B.B. Myofibrillary myopathy with abnormal foci of desmin positivity. II. Immunocytochemical analysis reveals accumulation of multiple other proteins. J Neuropathol Exp Pathol. 55:1996;563-577.
85. Porte A, Stoeckel ME, Sacrez A, Batzenschager A. Unusual familial cardiomyopathy with storage of intermediate filaments in the cardiac muscular cells. Virchows Arch A Pathol Anat 1980;386:43-58.
86. Sarnat H.B. Vimentin and desmin in maturing skeletal muscle and developmental myopathies. Neurology. 42:1992;1616-1624.
87. Magee K.E., DeJong R.N. Hereditary distal myopathy with onset in infancy. Arch Neurol. 13:1965;387-390.
88. Van der Does de Willebois A.E.M., Bethlem J., Meyer A.E.F.H.et al. Distal myopathy with onset in early infancy. Neurology. 18:1968;383-390.
89. Bautista J., Rafel E., Castilla J.et al. Hereditary distal myopathy with onset in early infancy. J Neurol Sci. 37:1978;149-158.
90. Haravuori H, Mäkelä-Bengs P, Udd B, et al. Linkage in tibial muscular dystrophy (TMD) on chromosome 2q31-33. Am J Hum Genet 1998;in press.