Welander distal myopathy - An overview

Neuromuscular Disorders

Volumn 8, Issue 2, 1998, Pages 115-118

  Borg, Kristian ^a   Åhlberg, Gabrielle ^a   Anvret, Maria ^a   Edström, Lars ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

Cytoplasmic inclusions; Distal myopathy (Welander); Electron microscopy; Molecular genetics; Muscle biopsy; Nuclear inclusions; Rimmed vacuoles

Indexed keywords

CREATINE KINASE;

ALPHA NERVE FIBER; ARTICLE; AUTOPHAGY; AUTOSOMAL DOMINANT INHERITANCE; CELL INCLUSION; CELL NUCLEUS INCLUSION BODY; CELL ULTRASTRUCTURE; CELL VACUOLE; CLINICAL FEATURE; CREATINE KINASE BLOOD LEVEL; FOOT; GENETIC ANALYSIS; GENETIC LINKAGE; HAND MUSCLE; HEART DISEASE; HISTOPATHOLOGY; HUMAN; INCLUSION BODY MYOSITIS; LEG MUSCLE; MOLECULAR GENETICS; MUSCLE BIOPSY; MUSCLE FIBRIL; MYOPATHY; NERVOUS SYSTEM DEVELOPMENT; NEUROPATHOLOGY; NEUROPHYSIOLOGY; ONSET AGE; PRIORITY JOURNAL; SARCOPLASM; SENSORY DYSFUNCTION; SURAL NERVE; SYMPTOM; WELANDER DISTAL MYOPATHY;

ADULT; AGE OF ONSET; BIOPSY; DIAGNOSIS, DIFFERENTIAL; GENES, DOMINANT; HUMANS; MICROSCOPY, ELECTRON; MUSCLES; MUSCULAR DISEASES; NERVOUS SYSTEM PHYSIOLOGY; SURAL NERVE; VACUOLES;

EID: 0032055820     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(98)00008-X     Document Type: Article

References (36)

1. [1] Welander L. Myopathia distalis tarda hereditaria. Acta Med Scand 1951;141:1-124.
2. [2] Sonler H. Distal myopathies. 25th ENMC International Workshop. 18-20 November 1994, Naarden, The Netherlands. Neuromusc Disord 1995;5:249-252.
3. [3] Markesberry WR, Griggs RC, Leach RP, et al. Late onset hereditary distal myopathy. Neurology 1974;23:127-134.
4. [4] Nonaka I, Sunohara N, Ishiura S, Satoyosi E. Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation. J Neurol Sci 1981;51:141-155.
5. [5] Udd B, Partanen J, Halonen P, et al. Tibial muscular dystrophy. Late adult onset distal myopathy in 66 Finnish patients. Arch Neurol 1993;50:604-608.
6. [6] Miyoshi K, Kawai H, Iwasa M, et al. Autosomal recessive distal muscular dystrophy as a new type of progressive muscular dystrophy: seven cases in eight families, including an autopsied case. Brain 1986;109:31-54.
7. [7] Lindberg C, Borg K, Edström L, Hedström A, Oldfors A. Inclusion Body Myositis and Welander distal myopathy - a clinical, neurophysiological, structural and immunohistological comparison. J Neurol Sci 1991;103:76-81.
8. [8] Askanas V, Engel WK. New advances in inclusion body myositis. Curr Opin Rheumatol 1993;5:732-741.
9. [9] Argov Z, Yarom R. 'Rimmed vacuole myopathy' sparing the quadriceps. A unique disorder in Iranian Jews. J Neurol Sci 1984;64:33-43.
10. [10] Borg K, Åhlberg G, Borg J, Edström L. Welander's distal myopathy: clinical, neurophysiological and muscle biopsy observations in young and middle-aged adults with early symptoms. J Neurol Neurosurg Psychiatry 1991;54:494-498.
11. [11] Åhlberg G, Jakobsson F, Fransson A, Moritz A, Borg K, Edström L. Distribution of muscle degeneration in Welander distal myopathy - a magnetic resonance imaging and muscle biopsy study. Neuromusc Disord 1994;4:55-62.
12. [12] Åhlberg G, Edström L, Anvret M, Borg K. Different clinical phenotypes in a large kindred with Welander distal myopathy. 1997: in manuscript.
13. [13] Borg K, Borg J, Lindblom U. Sensory involvement in distal myopathy (Welander). J Neurol Sci 1987;80:323-332.
14. [14] Borg K, Sachs C, Kaijser L. Autonomic cardiovascular responses in distal myopathy (Welander). Acta Neurol Scand 1987;76:261-266.
15. [15] Borg J, Grimby L, Hannerz J. Motor neuron firing range, axonal conduction velocity, and muscle fiber histochemistry in neuromuscular diseases. Muscle Nerve 1979;2:423-430.
16. [16] Edström L. Histochemical and histopathological changes in skeletal muscle in late-onset hereditary distal myopathy (Welander). J Neurol Sci 1975;26:147-157.
17. [17] Thornell L-E, Edström L, Billeter R, Butler-Browne GS, Kjörell U, Whalen RG. Muscle fibre type composition in distal myopathy (Welander). An analysis with enzyme-and immuno-histochemical, gelelectrophoretic and ultrastructural techniques. J Neurol Sci 1984;65:269-292.
18. [18] Borg K, Solders G, Borg J, Edström L, Kristensson K. Neurogenic involvement in distal myopathy (Welander). J Neurol Sci 1989; 91:53-70.
19. [19] Borg K, Ahlberg G, Hedberg B, Edström L. Muscle fibre degeneration in distal myopathy (Welander) - ultrastructure related to immunohistochemical observations on cytoskeletal proteins and Leu 19. Neuromusc Disord 1993;3:149-155.
20. [20] Edström L, Thornell L-E, Borg K, Butler-Brown G. Expression of neonatal/fetal myosin related to a satellite cell marker (Leu 19) in neurogenic muscle atrophy of man. 1997: in manuscript.
21. [21] Borg K, Edström L. Prior poliomyelitis - an immunohistochemical study of cytoskeletal proteins and a marker for muscle fibre regeneration in relation to usage of remaining motor units. Acta Neurol Scand 1993;87:128-132.
22. [22] Borg K, Tomé FMS, Edström L. Intranuclear and cytoplasmic filamentous inclusions in distal myopathy (Welander). Acta Neuropathol 1991;82:102-106.
23. [23] Carpenter S, Karpati G, Keller I, Eisen A. Inclusion body myositis: a distinct variety of idiopathic inflammatory myopathy. Neurology 1978;28:8-17.
24. [24] Tome FMS, Fardeau M, Lebon P, Chevallay M. Inclusion body myositis. Acta Neuropathol (Suppl) 1981;VII:287-291.
25. [25] Engel AG, Angelini C, Gomez MR. Fingerprint body myopathy: a newly recognized congenital muscle disease. Proc Mayo Clin 1972; 47:377-382.
26. [26] Tomé FMS, Fardeau M. 'Fingerprint inclusions' in muscle fibres in dystrophia myotonica. Acta Neuropathol 1973;24:62-67.
27. [27] Weber WL, May PE. Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am J Hum Genet 1989;44:388-396.
28. [28] Lathrop GM, Lalouel JM, Julier C, Ott J. Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci USA 1984;81:3443-3446.
29. [29] Gyapay G, Morissette J, Vignal A, et al. Généthon human genetic linkage map. Nat Genet 1994;7:246-339.
30. [30] Laing NG, Laing BA, Meredith C, et al. Autosomal dominant distal myopathy: linkage to chromosome 14. Am J Hum Genet 1995;56:422-427.
31. [31] Ikeuchi T, Asaka T, Saito M, et al. Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9. Ann Neurol 1997;41 (4):432-437.
32. [32] Argov Z, Tiram E, Eisenberg I, Sadeh M, Seidman CE, Seidman JG, Karpati G, Mittrani-Rosenbaum S. Various types of hereditary inclusion body myopathies map to chromosome 9p1-q1. Ann Neurol 1997;41:548-551.
33. [33] Åhlberg G, Borg K, Edström L, Anvret M. Welander distal myopathy is not linked to other defined distal myopathy gene loci. Neuromusc Disord 1997;7:256-260.
34. [34] Åhlberg G, Borg K, Edström L, Anvret M. Welander distal myopathy, a molecular genetic comparison to hereditary myopathies with inclusion bodies. Neuromusc Disord 1998;8:111-114.
35. [35] Haravouri H, Mäkelä-Bengs P, Udd B, et al. Assignment of the tibial muscular dystrophy (TMD) locus on chromosome 2q31 (abstract). Neuromusc Disord 1997;7:459.
36. [36] Diehler R, Schröder JM. Lacunar dilatations of intrafusal and extra-fusal terminal cisternae, annulate lamellae, confronting cisternae and tubulofilamentous inclusions within the spectrum of muscle and nerve fiber changes in myotonic dystrophy. Path Res Pract 1990;186:371-382.