Distal myopathies

Handbook of Clinical Neurology

Volumn 86, Issue , 2007, Pages 215-241

  Udd, Bjarne ^a  

^a VAASA CENTRAL HOSPITAL   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 67649316035     PISSN: 00729752     EISSN: None     Source Type: Book Series    
DOI: 10.1016/S0072-9752(07)86011-8     Document Type: Review

References (160)

1. Åhlberg G., Jakobsson F., Fransson A., et al. Distribution of muscle degeneration in Welander distal myopathy - a magnetic resonance imaging and muscle biopsy study. Neuromuscul Disord 4 (1994) 55-62
2. Åhlberg G., von Tell D., Borg K., et al. Genetic linkage of Welander distal myopathy to chromosome 2p13. Ann Neurol 46 (1999) 399-404
3. Anderson L.V., Harrison R.M., Pogue R., et al. Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy. Neuromuscul Disord 10 (2000) 553-559
4. Argov Z., Sadeh M., Mazor K., et al. Muscular dystrophy due to dysferlin deficiency in Libyan Jews. Clinical and genetic features. Brain 123 (2000) 1229-1237
5. Askanas V., and Engel W. Sporadic inclusion-body myositis and hereditary inclusion-body myopathies: current concepts of diagnosis and pathogenesis. Curr Opin Rheumatol 10 (1998) 530-542
6. Banwell B., and Engel A. αB-crystallin immunolocalization yields new insight into inclusion body myositis. Neurology 54 (2000) 1033-1041
7. Barohn R.J., Miller R.G., and Griggs R.C. Autosomal recessive distal dystrophy. Neurology 41 (1991) 1365-1369
8. Bashir R., Britton S., Strachan T., et al. A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nat Genet 20 (1998) 37-42
9. Baumbach L.L., Neville H.E., Ringel S.P., et al. Familial inclusion body myositis: evidence for autosomal dominant inheritance. Am J Hum Genet 47 (1990) A48
10. Bautista J., Rafel E., Castilla J.M., et al. Hereditary distal myopathy with onset in early infancy. J Neurol Sci 37 (1978) 149-162
11. Bejaoui K., Hirabayashi K., Hentati F., et al. Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) to chromosome 2p12-14. Neurology 45 (1995) 494-498
12. Bethlem J. Myopathies. 2nd ed. (1980), Elsevier North-Holland, Amsterdam 59-60
13. Biemond A. Myopathia distalis juveniles hereditaria. Acta Psychiatr Neurol Scand 30 (1955) 25-33
14. Biemond A. Myopathia distalis juveniles. In: Kuhn E. (Ed). Symposium Über Progressive Muskeldystrophien (1966), Springer, Berlin 95-100
15. Birchall P., von der Hagen M., Bates D., et al. Subclinical semitendinosus and obturator externus involvement defines an autosomal dominant myopathy with early respiratory failure. Neuromuscul Disord 15 (2005) 595-600
16. Blair E., Redwood C., de Jesus Oliveira M., et al. Mutations of the light meromyosin domain of the beta-myosin heavy chain rod in hypertrophic cardiomyopathy. Circ Res 90 (2002) 263-269
17. Borg K., Borg J., and Lindblom U. Sensory involvement in distal myopathy (Welander). J Neurol Sci 80 (1987) 323-331
18. Borg K., Solders G., Borg J., et al. Neurogenic involvement in distal myopathy (Welander). J Neurol Sci 91 (1989) 53-70
19. Borg K., Tome F.M., and Edstrom L. Intranuclear and cytoplasmic filamentous inclusions in distal myopathy (Welander). Acta Neuropathol 82 (1991) 102-114
20. Borg K., Ahlberg G., Borg J., et al. Welander's distal myopathy: clinical, neurophysiological and muscle biopsy observations in young and middle aged adults with early symptoms. J Neurol Neurosurg Psychiatry 54 (1991) 494-498
21. Brooke M.H. A Clinician's View of Neuromuscular Disease (1977), Williams & Wilkins, Baltimore 209
22. Cabella G., and Candelero G. U'n caso di miopathia distale tardiva tipo Gowers-Welander. Sist Nerv 22 (1970) 266-269
23. Carpenter S., Karpati G., Heller I., et al. Inclusion body myositis: a distinct variety of idiopathic inflammatory myopathy. Neurology 28 (1978) 8-17
24. Chinnery P., Johnson M.A., Walls T.J., et al. A novel autosomal dominant distal myopathy with early respiratory failure: clinico-pathologic characteristics and exclusion of linkage to candidate genetic loci. Ann Neurol 49 (2001) 443-452
25. Clemens P.R., Yamamoto M., and Engel A.G. Adult phosphorylase b kinase deficiency. Ann Neurol 28 (1990) 529-536
26. Cupler E.J., Bohlega S., Hessler R., et al. Miyoshi myopathy in Saudi Arabia: clinical, electrophysiological, histopathological and radiological features. Neuromuscul Disord 8 (1998) 321-326
27. Dahlgaard E. Myopathia distalis tarda hereditaria. Acta Psychiatr Neurol Scand 35 (1960) 440-445
28. Dalakas M., Park K.Y., Semino-Mora C., et al. Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene. N Engl J Med 342 (2000) 770-780
29. Day J.W., Roelofs R., Leroy B., et al. Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2). Neuromuscul Disord 9 (1999) 19-27
30. Day J.W., Ricker K., Jacobsen J.F., et al. Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum. Neurology 60 (2003) 657-664
31. de Seze J., Udd B., Haravuori H., et al. The first European tibial muscular dystrophy family outside the Finnish population. Neurology 51 (1998) 1746-1748
32. Di Blasi C., Moghadaszadeh B., Ciano C., et al. Abnormal lysosomal and ubiquitin-proteasome pathways in 19p13.3 distal myopathy. Ann Neurol 56 (2004) 133-138
33. DiMauro S., Hartwig G.B., Hays A., et al. Debrancher deficiency: neuromuscular disorder in five adults. Ann Neurol 5 (1979) 422-431
34. Duemler L.P. Late distal myopathy: report of a case. Neurology 12 (1962) 547-550
35. Dyck P.J. Inherited neuropathies: degeneration and atrophy affecting peripheral motor, sensory and autonomic neurons. In: Dyck P.J., Thomas P.K., and Lambert E.H. (Eds). Peripheral Neuropathy Vol 3 (1993), Saunders, Philadelphia 1065-1093
36. Edström L. Histochemical and histopathological changes in skeletal muscle in late-onset hereditary distal myopathy (Welander). J Neurol Sci 26 (1975) 147-157
37. Edström L., and Wroblewski R. Sarcoplasmic bodies in distal myopathy compared with nemaline rods: X-ray microanalysis and histochemical observation. J Neurol Sci 49 (1981) 341-355
38. Edström L., Thornell L.E., and Eriksson A. A new type of hereditary distal myopathy with characteristic sarcoplasmic bodies and intermediate (skeletin) filaments. J Neurol Sci 47 (1980) 171-189
39. Eisenberg I., Avidan N., Potikha T., et al. UDP-N-Acetylglucosamine 2-epimerase/N-Acetylemannosamine kinase is mutated in recessive hereditary inclusion body myopathy. Nat Genet 29 (2001) 83-87
40. Eymard B., Laforet P., Tome F.M., et al. Miyoshi distal myopathy: specific signs and incidence (in French). Rev Neurol 156 (2000) 161-168
41. Fardeau M., and Tomé F. Inclusion body myopathies. In: Askanas V., Serratrice G., and Engel W.K. (Eds). Inclusion Body Myositis and Myopathies (1998), Cambridge University Press, Cambridge 257
42. Feit H., Silbergleit A., Schneider L.B., et al. Vocal cord and pharyngeal weakness with autosomal distal myopathy: clinical description and gene localization to chromosome 5q31. Am J Hum Genet 63 (1998) 1732-1744
43. Felice K., Meredith C., Binz N., et al. Autosomal dominant distal myopathy not linked to the known distal myopathy loci. Neuromuscul Disord 9 (1999) 59-65
44. Fidzianska A., Drac H., and Kaminska A.M. Familial inclusion body myopathy with desmin storage. Acta Neuropathol 97 (1999) 509-514
45. Gallardo E., Rojas-Garcia R., de Luna N., et al. Inflammation in dysferlin myopathy: immunohistochemical characterization of 13 patients. Neurology 57 (2002) 2136-2138
46. Garrard P., Blake J., Stinton V., et al. Distal myopathy with tubular aggregates: a new phenotype associated with multiple deletions in mitochondrial DNA?. J Neurol Neurosurg Psychiatry 73 (2002) 207-208
47. Goto I., Kato H., Kase M., et al. Oculopharyngeal myopathy with distal and cardiomyopathy. J Neurol Neurosurg Psychiatry 40 (1977) 600-607
48. Gowers W.R. A lecture on myopathy and a distal form. Br Med J 2 (1902) 89-92
49. Griggs R., Askanas V., DiMauro S., et al. Inclusion body myositis and inclusion body myopathies. Ann Neurol 38 (1995) 705-713
50. Hackman P., Vihola A., Haravuori H., et al. Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. Am J Hum Genet 71 (2002) 492-500
51. Hackman P., Vihola A.K., and Udd A.B. The role of titin in muscular disorders. Ann Med 35 (2003) 434-441
52. Haravuori H., Makela-Bengs P., Udd B., et al. Assignment of the tibial muscular dystrophy (TMD) locus on chromosome 2q31. Am J Hum Genet 62 (1998) 620-626
53. Haravuori H., Mäkelä-Bengs P., Udd B., et al. Tibial muscular dystrophy and late onset distal myopathy are linked to the same locus on chromosome 2q. Neurology 50 Suppl 4 (1998) A186 (abstr)
54. Haravuori H., Vihola A., Straub V., et al. Secondary calpain3 deficiency in 2q linked muscular dystrophy - titin is the candidate gene. Neurology 56 (2001) 869-877
55. Haravuori H., Siitonen H.A., Mahjneh I., et al. Linkage to two separate loci in a family with a novel distal myopathy phenotype (MPD3). Neuromuscul Disord 14 (2004) 183-187
56. Hauser S., Horrigan S.K., Salmikangas P., et al. Myotilin is mutated in limb girdle muscular dystrophy 1A. Hum Mol Genet 9 (2000) 2141-2147
57. Hedera P., Petty E.M., Bui M.R., et al. The second kindred with autosomal dominant distal myopathy linked to chromosome 14q: genetic and clinical analysis. Arch Neurol 60 (2003) 1321-1325
58. Heyck H., Luders C.J., and Wolter M. Über eine kongenitale distale Muskeldystrophie mit benigner Progredienz Nervenarzt 39 (1968) 549-556
59. Hollinrake K. Polymyositis presenting as distal muscle weakness: a case report. J Neurol Sci 8 (1969) 479-492
60. Horowitz S., and Schmalbruch H. Autosomal dominant distal myopathy with desmin storage: a clinicopathologic and electrophysiologic study of a large kinship. Muscle Nerve 17 (1994) 151-160
61. Illa I., and Brown R. Distal anterior dystrophy: a distinct Spanish phenotype. Acta Myologica 3 (1999) 67-68
62. Illa I., Serrano-Munuera C., Gallardo E., et al. Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype. Ann Neurol 49 (2001) 130-134
63. Illarioshkin S., Ivanova-Smolenskaya I.A., Tanaka H., et al. Clinical and molecular analysis of large family with three distinct phenotypes of progressive muscular dystrophy. Brain 119 (1996) 1895-1909
64. Illarioshkin S., Ivanova-Smolenskaya I.A., Greenberg C.R., et al. Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy. Neurology 55 (2000) 1931-1933
65. Isaacs H., Badenhorst M.E., and Whistler T. Autosomal recessive distal myopathy. J Clin Pathol 41 (1988) 188-194
66. Ishpekova B., and Milanov I. Distal muscular dystrophy. Case reports. Electromyogr Clin Neurophysiol 37 (1997) 201-205
67. Kayashima T., Matsuo H., Satoh A., et al. Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE). J Hum Genet 47 (2002) 77-79
68. Kratz R., and Brooke M.H. Distal myopathy. In: Vinken P.J., and Bruyn C.W. (Eds). Handbook of Clinical Neurology Vol 40 (1980), Elsevier/North Holland, Amsterdam 471-483
69. Kumamoto T., Fukuhara N., Nagashima M., et al. Distal myopathy: histochemical and ultrastructural studies. Arch Neurol 39 (1982) 367-380
70. Kumamoto T., Ueyama H., Watanabe S., et al. Muscle fiber degradation in distal myopathy with rimmed vacuoles. Acta Neuropathol 87 (1994) 143-148
71. Kumamoto T., Ito T., Horinouchi H., et al. Increased lysosome-related proteins in the skeletal muscles of distal myopathy with rimmed vacuoles. Muscle Nerve 23 (2000) 1686-1693
72. Laing N., Laing B.A., Meredith C., et al. Autosomal dominant distal myopathy: linkage to chromosome 14. Am J Hum Genet 56 (1995) 422-427
73. Lamont P., Udd B., Mastaglia F.L., et al. Laing early-onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy. J Neurol Neurosurg Psychiatry 77 (2006) 208-215
74. Lapresle J., Fardeau M., and Godet-Guillain J. Myopathie distale et congenitale, avec hypertrophie des mollets presence d'anomahes mitochondriales a la biopsie musculaire. J Neurol Sci 17 (1972) 87-94
75. Linssen W., de Visser M., Notermans N.C., et al. Genetic heterogeneity in Miyoshi type distal muscular dystrophy. Neuromuscul Disord 8 (1998) 317-320
76. Liu J., Aoki M., Illa I., et al. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet 20 (1998) 31-40
77. Magee K.R., and Dejong R.N. Hereditary distal myopathy with onset in infancy. Arch Neurol 13 (1965) 387-398
78. Mahjneh I., Haravuori H., Paetau A., et al. A distinct phenotype of distal myopathy in a large Finnish family. Neurology 61 (2003) 87-92
79. Mahjneh I., Lamminen A.E., Udd B., et al. Muscle magnetic resonance imaging shows distinct diagnostic patterns in Welander and tibial muscular dystrophy. Acta Neurol Scand 110 (2004) 87-93
80. Mamoli A., and Scarlato G. Distal myopathy. Clinical, histological and electromyographic aspects of a sporadic case. Riv Neurobiol 15 (1969) 877-881
81. Markesbery W.R., Griggs R.C., Leach R.P., et al. Late onset hereditary distal myopathy. Neurology 23 (1977) 127-134
82. Mastaglia F., and Laing N. Distal myopathies: clinical and molecular diagnosis and classification. J Neurol Neurosurg Psychiatry 67 (1999) 703-707
83. Mastaglia F.L., Phillips B.A., Cala L.A., et al. Early onset chromosome 14-linked distal myopathy (Laing). Neuromuscul Disord 12 (2002) 350-357
84. Matsuda C., Aoki M., Hayashi Y.K., et al. Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy. Neurology 53 (1999) 1119-1122
85. Matsuda C., Hayashi Y.K., Ogawa M., et al. The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle. Hum Mol Genet 17 (2001) 1761-1766
86. McLeod J.G., and Prineas J.W. Distal type of chronic spinal muscular atrophy. Brain 94 (1971) 703-708
87. McNally E.M., Ly C.T., Rosenmann H., et al. Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation. Am J Med Genet 91 (2000) 305-312
88. Mehrotra M.P., Yadava S.N., Gupta A.K., et al. Distal myopathy. J Indian Med Assoc 49 (1964) 392-396
89. Melberg A., Oldfors A., Blomstrom-Lundqvist C., et al. Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q. Ann Neurol 46 (1999) 684-692
90. Meredith C. Distal myopathy (2001), University of Western Australia, Perth Thesis
91. Meredith C., Herrmann R., Parry C., et al. Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause Laing early-onset distal myopathy (MPD1). Am J Hum Genet 75 (2004) 703-708
92. Milhorat A.T., and Wolff H.G. Studies in diseases of muscle: XIII. Progressive muscular dystrophy of atrophic distal type: Report on a family: report of autopsy. Arch Neurol Psychiatry 49 (1943) 655
93. Miller R.G., Blank N.K., and Layzer R.B. Sporadic distal myopathy with early adult onset. Ann Neurol 5 (1979) 220-228
94. Miyoshi K., Iwasa M., Kawai H., et al. Autosomal recessive distal muscular dystrophy: a new variety of distal muscular dystrophy predominantly seen in Japan. Nippon Rinsho (Tokyo) 35 (1977) 3922
95. Miyoshi K., Kawai H., Iwasa M., et al. Autosomal recessive distal muscular dystrophy as a new type of progressive muscular dystrophy: seventeen cases in eight families, including an autopsied case. Brain 109 (1986) 31-54
96. Mizusawa H., Kurisaki H., Takatsu M., et al. Rimmed vacuolar distal myopathy: an ultrastructural study. J Neurol 234 (1987) 137-147
97. Mongini T., Doriguzzi C., Palmucci L., et al. Sporadic distal myopathy with early adult onset: a study of muscle biopsies and muscle cell cultures. Eur Neurol 29 (1989) 287-291
98. Moreira E., Vainzof M., Marie S.K., et al. The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12. Am J Hum Genet 61 (1997) 151-159
99. Moxley R.T., Griggs R.C., Markesbery W.R., et al. Metabolic implications of distal atrophy: carbohydrate metabolism in centronuclear myopathy. J Neurol Sci 39 (1978) 247-260
100. Murakami N., Ihara Y., and Nonaka I. Muscle fiber degeneration in distal myopathy with rimmed vacuoles. Acta Neuropathol 89 (1995) 29-34
101. Murone I., Sato T., Shirakawa K., et al. Distal myopathy: nonhereditary distal myopathy. Clin Neurol (Tokyo) 3 (1963) 387-394
102. Nakano S., Engel A.G., Waclawik A.J., et al. Myofibrillar myopathy with abnormal foci of desmin positivity. J Neuropathol Exp Neurol 55 (1996) 549-562
103. Neville H., Baumbach L.L., Ringel S.P., et al. Familial inclusion body myositis: evidence for autosomal dominant inheritance. Neurology 42 (1992) 897-902
104. Nishino I., Noguchi S., Murayama K., et al. Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy. Neurology 59 (2002) 1689-1693
105. 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
106. 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
107. Penisson-Besnier I., Dumez C., Chateau D., et al. Autosomal dominant late adult onset distal leg myopathy. Neuromuscul Disord 8 (1998) 459-466
108. Penisson-Besnier I., Talyinen K., Dumez C., et al. Myotilinopathy in a late onset myopathy family. Neuromuscul Disord 16 (2006) 427-431
109. Richard I., Broux O., Allamand V., et al. Mutations in the proteolytic enzyme calpain3 cause limb-girdle muscular dystrophy type 2A. Cell 81 (1995) 27-40
110. Richard P., Charron P., Carrier L., et al. Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation 107 (2003) 2227-2232
111. Ricker K., and Mertens H.G. The differential diagnosis of the myogenic (facio)scapulo-peroneal syndrome. Eur Neurol 1 (1968) 275-279
112. Salmikangas P., van der Ven P.F., Lalowski M., et al. Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly. Hum Mol Genet 12 (2003) 189-203
113. Salmon M.A., Esiri M.M., and Ruderman N.B. Myopathic disorder associated with mitochondrial abnormalities, hyperglycaemia, and hyperketonaemia. Lancet 2 (1971) 290-293
114. Satoyoshi E., and Kinoshita M. Oculopharyngodistal myopathy: report of four families. Arch Neurol 34 (1977) 89-92
115. Scoppetta C., Casali C., La Cesa I., et al. Infantile autosomal dominant distal myopathy. Acta Neurol Scand 92 (1995) 122-126
116. Scoppetta C., Mercuri B., Di Lello R., et al. Autosomal recessive distal dystrophy. Ital J Neurol Sci 18 (1997) 271-276
117. Scrimgeour E., and Mastaglia F. Oculopharyngeal and distal myopathy. A case study from Papua New Guinea. Am J Med Genet 17 (1984) 763-771
118. Selcen D., and Engel A.G. Mutations in myotilin cause myofibrillar myopathy. Neurology 62 (2004) 1363-1371
119. Selcen D., and Engel A.G. Mutations in ZASP define a novel form of muscular dystrophy in humans. Ann Neurol 57 (2005) 269-276
120. Selcen D., Stilling G., and Engel A.G. The earliest pathologic alterations in dysferlinopathy. Neurology 56 (2001) 1472-1481
121. Servidei S., Capon F., Spinazzola A., et al. A distinctive autosomal dominant vacuolar neuromyopathy linked to 19p13. Neurology 53 (1999) 830-837
122. Sieb J., VonOertzen J., Tolksdorf K., et al. Sporadic adult-onset distal myopathy with rimmed vacuoles, 16-18 nm tubulofilaments and extensive rod formation. J Neurol Sci 146 (1997) 81-84
123. Sjöberg G., Saavedra-Matiz C.A., Rosen D.R., et al. A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation. Hum Mol Genet 8 (1999) 2191-2198
124. Song E.J., Yim S.H., Kim E., et al. Human Fas-associated factor 1, interacting with ubiquitinated proteins and valosin-containing protein, is involved in the ubiquitin-proteasome pathway. Mol Cell Biol 25 (2005) 2511-2524
125. Sotgia F., Woodman S.E., Bonuccelli G., et al. Phenotypic behavior of caveolin-3 R26Q, a mutant associated with hyperCKemia, distal myopathy, and rippling muscle disease. Am J Physiol Cell Physiol 285 (2003) C1150-C1160
126. Sugawara M., Kato K., Komatsu M., et al. A novel de novo mutation in the desmin gene causes desmin myopathy with toxic aggregates. Neurology 55 (2000) 986-990
127. Sumner D., Crawfurd M.D., and Harriman D.G. Distal muscular dystrophy in an English family. Brain 94 (1971) 51-59
128. Sunohara N., Nonaka I., Kamei N., et al. Distal myopathy with rimmed vacuole formation. A follow up study. Brain 112 (1989) 65-83
129. Swash M., Schwarz M.S., Thompson A., et al. Distal myopathy with focal granular degenerative change in vacuolated type 2 fibers. Clin Neuropathol 7 (1988) 249-253
130. Tateyama M., Aoki M., Nishino I., et al. Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy. Neurology 58 (2002) 323-325
131. Thierren C., Dodig D., Karpati G., et al. Validation of Time- and Cost-Effective RNA based approach in detecting human dysferlin gene mutations. Neurology 64 (2005) A175 (suppl)
132. Tomimitsu H., Ishikawa K., Shimizu J., et al. Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene. Neurology 59 (2002) 451-454
133. Tomlinson B.E., Walton J.N., and Irving D. Spinal cord limb motor neurones in muscular dystrophy. J Neurol Sci 22 (1974) 305-311
134. Udd B. Limb-girdle type muscular dystrophy in a large family with distal myopathy: a homozygous manifestation of a dominant gene?. J Med Genet 29 (1992) 383-390
135. Udd B., Kaarianen H., and Somer H. Muscular dystrophy with separate phenotypes in a large family. Muscle Nerve 14 (1991) 1050-1058
136. Udd B., Lamminen A., and Somer H. Imaging methods reveal unexpected patchy lesions in late onset distal myopathy. Neuromuscul Disord 1 (1991) 271-280
137. Udd B., Rapola J., Nokelainen P., et al. Nonvacuolar myopathy in a large family with both late adult onset distal myopathy and limb-girdle type muscular dystrophy. J Neurol Sci 113 (1992) 214-221
138. 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
139. Udd B., Haravuori H., Kalimo H., et al. Tibial muscular dystrophy - from clinical description to linkage on chromosome 2q31. Neuromuscul Disord 8 (1998) 327-332
140. Udd B., Vihola A., Sarparanta J., et al. Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J. Neurology 64 (2005) 636-642
141. Uesaka Y., Nakamichi K., Kojima S., et al. Autosomal dominant distal myopathy with rimmed vacuoles and cytoplasmic inclusions: report of a family (in Japanese). Rinsho-Shinkeigaku 37 (1997) 1-6
142. Uyama E., Uchino M., Chateau D., et al. Autosomal recessive oculopharyngodistal myopathy in light of distal myopathy with rimmed vacuoles and oculopharyngeal muscular dystrophy. Neuromuscul Disord 8 (1998) 119-125
143. van den Bergh P.Y., Bouquiaux O., Verellen C., et al. Tibial muscular dystrophy in a Belgian family. Ann Neurol 54 (2003) 248-251
144. van der Does de Willebois A., Meyer A.E., Simons A.J., et al. Distal myopathy with onset in early infancy. Neurology 18 (1968) 383-395
145. van der Koi A., Visser M.C., Rosenberg N., et al. Extension of the clinical range of facioscapulohumeral dystrophy: report of six cases. J Neurol Neurosurg Psychiatry 69 (2000) 114-116
146. van der Sluijs B.M., ter Laak H.J., Scheffer H., et al. Autosomal recessive oculopharyngodistal myopathy: a distinct phenotypical, histological, and genetic entity. J Neurol Neurosurg Psychiatry 75 (2004) 1499-1501
147. van Kasteren B.J. Polymyositis presenting with chronic progressive distal muscular weakness. J Neurol Sci 41 (1975) 307-316
148. Vester U., Schubert M., Offner G., et al. Distal myopathy in nephropathic cystinosis. Pediatr Nephrol 14 (2000) 36-38
149. Voit T., Kutz P., Leube B., et al. Autosomal dominant distal myopathy: further evidence of a chromosome 14 locus. Neuromuscul Disord 11 (2001) 11-19
150. von Tell D. Welander Distal Myopathy: Gene Mapping and Analysis of Candidate Genes (2004), The Karolinska Institute, Stockholm Thesis
151. von Tell D., Somer H., Udd B., et al. Welander distal myopathy outside the Swedish population: phenotype and genotype. Neuromuscul Disord 12 (2002) 544-547
152. von Tell D., Bruder C.E., Anderson L.V., et al. Refined mapping of the Welander distal myopathy region on chromosome 2p13 positions the new candidate region relomeric of the DYSF locus. Neurogenetics 4 (2003) 173-177
153. th ENMC International Workshop: Nemaline Myopathy. Neuromuscul Disord 13 (2003) 501-507
154. Weiler T., Greenberg C.R., Nylen E., et al. Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype. Am J Hum Genet 59 (1996) 872-878
155. Welander L. Myopathia distalis tarda hereditaria. Acta Med Scand 141 Suppl. 265 (1951) 1
156. Welander L. Homozygous appearance of distal myopathy. Acta Genet 7 (1957) 321-325
157. Willeit J., Kiechl S., Kiechl-Kohlendorfer U., et al. Juvenile asymmetric segmental spinal muscular atrophy (Hirayama's disease): three cases without evidence of "flexion myelopathy". Acta Neurol Scand 104 (2001) 320-322
158. Williams D.R., Reardon K., Roberts L., et al. A new dominant distal myopathy affecting posterior leg and anterior upper limb muscles. Neurology 64 (2005) 1245-1254
159. Witoonpanich R., Phankhian S., Sura T., et al. Oculopharyngodistal myopathy in a Thai family. J Med Assoc Thai 87 (2004) 1518-1521
160. Zimprich F., Djamshidian A., Hainfellner J.A., et al. An autosomal dominant early adult-onset distal muscular dystrophy. Muscle Nerve 23 (2000) 1876-1879