Epidemiology of dystrophinopathies in North-West Tuscany: A molecular genetics-based revisitation

Clinical Genetics

Volumn 56, Issue 1, 1999, Pages 51-58

  Siciliano, G ^a   Tessa, A ^b   Renna, M ^b   Manca, M L ^b   Mancuso, M ^b   Murri, L ^b  

^a UNIVERSITY OF PISA   (Italy)

^b NONE

Author keywords

Becker muscular dystrophy; Duchenne muscular dystrophy; Dystrophinopathies; Epidemiology; Molecular diagnosis

Indexed keywords

DYSTROPHIN;

ADOLESCENT; ADULT; ARTICLE; BECKER MUSCULAR DYSTROPHY; DIAGNOSTIC ERROR; DUCHENNE MUSCULAR DYSTROPHY; FEMALE; GENE DELETION; GENE FREQUENCY; HETEROZYGOTE; HUMAN; ITALY; MAJOR CLINICAL STUDY; MALE; MOLECULAR GENETICS; ONSET AGE; PRESCHOOL CHILD; PREVALENCE; PRIORITY JOURNAL; SCHOOL CHILD;

DYSTROPHIN; EPIDEMIOLOGY, MOLECULAR; HUMANS; INCIDENCE; ITALY; MALE; MUSCULAR DYSTROPHIES;

EID: 0032865972     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.1999.560107.x     Document Type: Article

References (27)

1. Hoffman EP, Knudson CM, Campbell KP, Kunkel LM. Subcellular fractionation of dystrophin to the triads of skeletal muscle. Nature 1987: 330: 754-757.
2. Koening M, Hoffman EP, Bertelson CJ, Monaco AP, Feener C, Kunkel LM. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 1987: 50: 509-517.
3. Monaco AP, Bertelson C, Liechti-Gallati S, Moser H, Kunkel L. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics 1988: 2: 90-95.
4. Bushby KMD, Thambyah M, Gardner-Medwin D. Prevalence and incidence of Becker muscular dystrophy. Lancet 1991: 337: 1022-1024.
5. Mostacciuolo ML, Miorin M, Pegoraro E, Fanin M, Schiavon F, Vitiello L, Saad FA, Angelini C, Danieli CA. Reappraisal of the incidence rate of Duchenne and Becker muscular dystrophies on the basis of molecular diagnosis. Neuroepidemiology 1993: 12: 326-330.
6. Peterlin B, Zidar J, Meznaric-Petrusa M, Zupancic N. Genetic epidemiology of Duchenne and Becker muscular dystrophy in Slovenia. Clin Genet 1997: 51: 94-97.
7. Rossi B, Siciliano G, Sartucci F, Bianchi F. Epidemiology of progressive muscular dystrophy in north-western Tuscany. Acta Neurologica 1984: 39: 125-133.
8. Emery AEH (ed). Diagnostic Criteria for Neuromuscolar Disorders. Baarn, The Netherlands: ENMC, 1994: 9-13.
9. Angelini C, Fanin M, Freda MP, Martinello F, Miorin M, Melacini P, Siciliano G, Pegoraro E, Rosa M, Danieli GA. Prognostic factors in mild dystrophinopathies. J Neurol Sci 1996: 142: 70-78.
10. Miller SA, Dykesd D, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988: 16: 1215.
11. Chamberlain JS, Gibbs RA, Ranier JE, Nguyen PN, Caskey CT. Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res 1988: 16: 11141-11156.
12. Beggs AH, Hoffman EP, Snyder JR, Arahata K, Specht L, Shapiro F, Angelini C, Sugita H, Kunkel LM. Exploring the molecular basis for variability among patients with Becker muscular dystrophy: Dystrophin gene and protein studies. Am J Hum Genet 1991: 49: 54-67.
13. Walton JN, Gardner-Medwin D. Progressive muscular dystrophy and myotonic disorders. In: Walton JN, ed. Disorders of voluntary muscle. Edinburgh-London: Churchill-Livingstone, 1974.
14. Appleton RE, Nicolaides P. Early diagnosis of Duchenne muscular dystrophy. Lancet 1995: 345: 1243-1244.
15. Morandi L, Mora M, Confalonieri V, Barresi R, Di Blasi C, Brugnoni R. Dystrophin characterization in BMD patients: Correlation of abnormal protein with clinical phenotype. J Neurol Sci 1995: 132: 146-155.
16. Angelini C, Ringel SP, Micaglio GP, Trevisan CP. Italian multicentric therapeutic trials in Duchenne dystrophy. 1st Protocol. Ital J Neurol Sci 1984: 4: 137-142.
17. Hughes MI, Hicks EM, Nevin NC, Patterson VH. The prevalence of inherited neuromuscular disease in Northern Ireland. Neuromusc Disord 1996: 6: 69-73.
18. Monkton G, Hoskin V, Warren S. Prevalence and incidence of muscular dystrophy in Alberta, Canada. Clin Genet 1982: 21: 19-24.
19. Mostacciuolo ML, Lombardi A, Cambissa V, Danieli GA, Angelini C. Population data on benign and severe forms of X-linked muscular dystrophy. Hum Genet 1987: 75: 217-220.
20. Siciliano G, Fanin M, Angelini C, Pollina LE, Miorin M, Saad FA, Freda MP, Muratoria A. Prevalent cardiac involvement in dystrophin Becker type mutation. Neuromus Disord 1994: 4: 381-386.
21. Gospe SM, Lazare RP, Lava NS, Grootscholten PM, Scott MO, Fischbeck KH. Familial X-linked myalgia and cramps. Neurology 1989: 39: 1277-1280.
22. Gardner-Medwin D. Clinical features and classification of the muscular dystrophies. Br Med Bull 1980: 36: 109-115.
23. Arikawa E, Hoffman EP, Kaido M, Nonaka I, Sugita H, Aharata K. The frequency of patients with dystrophin abnormalities in a limb-girdle patient population. Neurology 1991: 41: 1491-1496.
24. Comi GP, Prelle A, Bresolin N, Moggio M, Bardoni A, Gallanti A, Vita G, Toscano A, Ferro MT, Bordoni A. Clinical variability in Becker muscular dystrophy. Genetic, biochemical and immunohistochemical correlates. Brain 1994: 117: 1-14.
25. Grimm T, Meng G, Liechti-Gallati S, Bettecken T, Muller CR, Muller B. On the origin of deletions and point mutations in Duchenne muscular dystrophy: most deletions arise in oogenesis and most point mutations result from events in spermatogenesis. J Med Genet 1994: 31: 183-186.
26. Kawamura J, Kato S, Ishihara T, Hiraishi Y, Kawashiro T. Difference of new mutation rates in dystrophin gene between deletion and duplication mutation in Duchenne and Becker muscular dystrophy. Rinsho Shinkeigaku 1997: 37: 212-217.
27. Tuffery S, Chambert S, Bareil C, Sarda P, Coubes C, Echenne B, Damaille J, Claustres M. Mutation analysis of the dystrophin gene in Southern French DMD or BMD families: from Southern blot to protein truncation test. Hum Genet 1998: 102: 334-342.