Linkage of hereditary distal myopathy with desmin accumulation to 2q

Human Heredity

Volumn 50, Issue 3, 2000, Pages 166-170

  Saavedra Matiz, Carlos A ^a   Chapman, Nicola H ^b   Wijsman, Ellen M ^b,c   Horowitz, Steven H ^d   Rosen, Daniel R ^a  

^a WADSWORTH CENTER   (United States)

^b UNIVERSITY OF WASHINGTON   (United States)

^c UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^d University of Missouri   (United States)

Author keywords

Desmin; Distal myopathy; Linkage analysis

Indexed keywords

DESMIN; DNA; DNA MARKER;

ARTICLE; CARDIOMYOPATHY; CHROMOSOME 2Q; CLINICAL ARTICLE; CONGESTIVE HEART FAILURE; DISTAL MYOPATHY; FEMALE; GENE MAPPING; GENETIC LINKAGE; HISTOPATHOLOGY; HUMAN; HUMAN CELL; MALE; NERVE BLOCK;

EID: 0033976291     PISSN: 00015652     EISSN: None     Source Type: Journal    
DOI: 10.1159/000022908     Document Type: Article

References (25)

1. Griggs RC, Markesbery WR: Distal myopathies: in Engel AG. Franzini-Armstrong C (eds): Myology, ed 2. McGraw-Hill, New York, 1994, pp 1246-1257.
2. Barohn RJ, Amato JJ, Griggs RC: Overview of distal myopathies: From the clinical to the molecular. Neuromuscul Disord 1998;8:309-316.
3. Miyoshi K, Kawai H, Iwasa M, Kusaka K, Nishino H: Autosomal recessive distal muscular dystrophy as a new type of progressive muscular dystrophy: Seventeen cases in eight families including an autopsied case. Brain 1986; 109:31-54.
4. Welander L: 'Myopathia distalis tarda hereditaria: 249 examined cases in 72 pedigrees. Acta Med Scand 1951;141(suppl 265):1-124.
5. Markesbery WR, Griggs RC, Leach RP, Lapham LW: Late onset hereditary distal myopathy. Neurology 1974;24:127-134.
6. Barohn RJ, Miller RG, Griggs RC: Autosomal recessive distal dystrophy. Neurology 1991;41: 1365-1370.
7. Fardeau M, Godet-Gullain J, Tome FMS, Collin H, Gaudeau S, Boffety C, Vernant P: Une nouvelle affection musculaire familiale, définie par l'accumulation intrasarcoplasminique d'un matériel granulo-filamentaire dense en microscopie électronique. Rev Neurol (Paris) 1978; 134:411-425.
8. Edstrom L, Thornell L-E, Eriksson A: A new type of hereditary distal myopathy with characteristic sarcoplasmic bodies and intermediate (skeletin) filaments. J Neurol Sci 1980;47:171-190.
9. Helliwell TR, Green ART, Green A, Edwards RHT: Hereditary distal myopathy with granulo-filamentous cytoplasmic inclusions containing desmin, dystrophin, and vimentin. J Neurol Sci 1994;124:174-187.
10. Goebel HH: Desmin-related neuromuscular disorders. Muscle Nerve 1995;18:1306-1320.
11. Goebel HH: Desminopathies; in Emery AEH (ed): Neuromuscular Disorders: Clinical and Molecular Genetics. J Wiley & Sons, Chichester, 1998, pp 217-246.
12. Goldfarb LG, Park K-Y, Cervenakova L, Gorokhova S, Lee H-S, Vasconcelos O, Nagle JW, Seminoo-Mora S, Sivakumar K, Dalakas DC: Missense mutations in desmin associated with familial cardiac and skeletal myopathy. Nat Genet 1998;19:402-403.
13. Vicart P, Caron A, Guicheney P, Li Z, Prevost MC, Faure A, Chateau D, Chapon F, Tome F, Dupret J-M, Paulin D, Fardeau M: A missense mutation in the αB-crystallin chaperone gene causes a desmin-related myopathy. Nat Genet 1998;20:92-95.
14. Muñoz-Marmol AM, Strasser G, Isamat M, Coulombe PA, Yang Y, Roca X, Vela E, Mate JL, Coll J, Fernandez-Figueras MT, Navas-Palacios JJ, Ariza A, Fuchs E: A dysfunctional desmin mutation in a patient with severe generalized myopathy. Proc Natl Acad Sci USA 1998; 95:11312-11317.
15. Milhorat AT, Wolff HG: Studies in diseases of muscle. XIII. Progressive muscular dystrophy of atrophic distal type; report of a family: report of autopsy. Arch Neural Psychiatry 1943;49:641-654.
16. Horowitz SH, Schmalhruch H: Autosomal dominant distal myopathy with desmin storage: A clinicopathologic and electrophysiologic study of a large kinship. Muscle Nerve 1994;17: 151-160.
17. Sambrook J, Fritsch EF, Maniatis T: Molecular Cloning: A Laboratory Manual, ed 2. Cold Spring Harbor. Cold Spring Harbor Laboratory. Press, 1989.
18. Ott J: A computer program for linkage analysis of general human pedigrees. Am J Hum Genet 1976;28:528-529.
19. O'Connell JR, Weeks DE: The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set-recording in fuzzy inheritance. Nat Genet 1995;11:402-408.
20. Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal A, Milleasseau P, Marc S, Hazan J, Seboun E, Lathrop M, Gyapay G, Morissette J, Weissenbach J: A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 1996;380:152-154.
21. Laing NG, Laing BA, Meredith C, Wilton SD, Robbins P, Honeyman K, Dorosz S, Kozman H, Mastaglia FL, Kakulas BA: Autosomal dominant distal myopathy: Linkage to chromosome 14. Am J Hum Genet 1995;56:422-427.
22. Beggs AH, Phillips HA, Kozman H, Mulley JC, Wilton SD, Kunkel LM, Laing NG: A (CA)n repeat polymorphism for the human skeletal muscle alpha-actinin gene ACTN2 and its localization on the linkage map of chromosome 1. Genomics 1992;13:1314-1315.
23. Viegas-Pequignot E, Lin LZ, Dutrillaux B, Apiou F, Paulin D: Assignment of human desmin gene to band 2q35 by nonradioactive in situ hybridization. Hum Genet 1989;83:33-36.
24. Deloukas P, Schuler GD, Gyapay G, Beasley EM, Soderlund C, Rodriguez-Tome P, Hui L, Matise TC, McKusick KB, Beckmann JS, Bentolila S, Bihoreau M, Birren BB, Browne J, Butler A, Castle AB, Chiannilkulchai N, Clee C, Day PJ, Dehejia A, Dibling T, Drouot N, Duprat S, Fizames C, Bentley DR, et al.: A physical map of 30,000 human genes. Science 1998;282:744-746.
25. Vicart P, Dupret J-M, Hazan J, Li Z, Gyapay G, Krishamoorthy R, Weissenbach J, Fardeau M, Paulin D: Human desmin gene: cDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy. Hum Genet 1996;98:422-429.