Facioscapulohumeral muscular dystrophy: Epidemiological and molecular study in a north-east Italian population sample

Clinical Genetics

Volumn 75, Issue 6, 2009, Pages 550-555

  Mostacciuolo, M L ^a   Pastorello, E ^a   Vazza, G ^a   Miorin, M ^a   Angelini, C ^a   Tomelleri, G ^b   Galluzzi, G ^c   Trevisan, Carlo Pietro ^a  

^a UNIVERSITY OF PADOVA   (Italy)

^b UNIVERSITY OF VERONA   (Italy)

^c IRCCS FONDAZIONE SANTA LUCIA   (Italy)

Author keywords

Dystrophy; Epidemiology; Facioscapulohumeral muscular; FSHD; Prevalence

Indexed keywords

ADULT; AGED; ARTICLE; CHROMOSOME 4Q; CHROMOSOME DELETION; CLINICAL ARTICLE; CONTROLLED STUDY; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; FEMALE; GENE SEGREGATION; GENETIC ANALYSIS; HAPLOTYPE; HEALTH SURVEY; HUMAN; ITALY; MALE; MOLECULAR GENETICS; NEUROMUSCULAR DISEASE; PHENOTYPE; PRIORITY JOURNAL;

ADULT; AGE OF ONSET; AGED; AGED, 80 AND OVER; DNA; FEMALE; HUMANS; ITALY; MALE; MIDDLE AGED; MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL; PEDIGREE; PREVALENCE; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION;

EID: 66549122709     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01158.x     Document Type: Article

References (22)

1. Tawil R, van der Maarel SM. Facioscapulohumeral muscular dystrophy. Muscle Nerve 2006: 34: 1-15.
2. Padberg GW. Facioscapulohumeral muscular dystrophy: A clinician's experience. In: Upadhyaya M, Cooper DN, eds. Facioscapulohumeral muscular dystrophy. Clinical medicine and molecular cell biology. Oxon, UK: Garland Science/BIOS Scientific Publishers, 2004: 41-54.
3. Trevisan CP, Pastorello E, Tomelleri G et al. Facioscapulohumeral muscular dystrophy: Hearing loss and other atypical features of patients with large 4q35 deletions. Eur J Neurol 2008: 15: 1353-1358.
4. Lunt PW, Compston DA, Harper PS. Estimation of age dependent penetrance in facioscapulohumeral muscular dystrophy by minimising ascertainment bias. J Med Genet 1989: 26: 755-760.
5. Wijmenga C, Frants RR, Brouwer OF, Moerer P, Weber JL, Padberg GW. Location of facioscapulohumeral muscular dystrophy gene on chromosome 4. Lancet 1990: 336: 651-653.
6. Tupler R, Gabellini D. Molecular basis of facioscapulohumeral muscular dystrophy. Cell Mol Life Sci 2004: 61: 557-66.
7. Butz M, Koch MC, Muller-Felber W, Lemmers RJ, van der Maarel SM, Schreiber H. Facioscapulohumeral muscular dystrophy. Phenotype-genotype correlation in patients with borderline D4Z4 repeat numbers. J Neurol 2003: 250: 932-937.
8. Gilbert JR, Stajich JM, Wall S et al. Evidence for heterogeneity in facioscapulohumeral muscular dystrophy (FSHD). Am J Hum Genet 1993: 53: 401-408.
9. Emery AE. Population frequencies of inherited neuromuscular diseases-a world survey. Neuromuscul Disord 1991: 1: 19-29.
10. Padberg GW, Lunt PW, Koch M, Fardeau M. Facioscapulohumeral muscular dystrophy. In: Emery AEH, ed. Diagnostic criteria for neuromuscular disorders. Baarn, The Netherlands: ENMC, 1997: 9-15.
11. Trevisan CP, Pastorello E, Armani M et al. Facioscapulohumeral muscular dystrophy and occurrence of heart arrhythmia. Eur Neurol 2006: 56: 1-5.
12. Trevisan CP, Pastorello E, Ermani M et al. Facioscapulohumeral muscular dystrophy: A multicenter study on hearing function. Audiol Neurootol 2008: 13: 1-6.
13. Galluzzi G, Deidda G, Cacurri S et al. Molecular analysis of 4q35 rearrangements in fascioscapulohumeral muscular dystrophy (FSHD): application to family studies for a correct genetic advice and a reliable prenatal diagnosis of the disease. Neuromuscul Disord 1999: 9: 190-198.
14. Moser H, Wiesmann U, Richterich R, Rossi E. Progressive Muskeldytrophie. VIII. Haufigkeit, Klinik und Genetik der Typen I und II. Schweiz Med Wochenschr 1966: 96: 205-211.
15. Kurland LT. Descriptive epidemiology of selected neurologic and myopathic disorders with particular reference to a survey in Rochester, Minnesota. J Chronic Dis 1958: 8: 378-418.
16. 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.
17. Siciliano G, Manca M, Gennarelli M et al. Epidemiology of myotonic dystrophy in Italy: Re-appraisal after genetic diagnosis. Clin Genet 2001: 59: 344-349.
18. Bakker E, Van der Wielen MJ, Voorhoeve E et al. Diagnostic, predictive, and prenatal testing for facioscapulohumeral muscular dystrophy: diagnostic approach for sporadic and familial cases. J Med Genet 1996: 33: 29-35.
19. Tonini MMO, Passos-Bueno MR, Cerqueira A, Matioli SR, Pavanello R, Zatz M. Asymptomatic carriers and gender differences in facioscapulohumeral muscular dystrophy (FSHD). Neuromuscul Disord 2004: 14: 33-38.
20. Zatz M, Marie SK, Cerqueira A, Vainzof M, Pavanello RC, Passos-Bueno MR. The facioscapulohumeral muscular dystrophy (FSHD1) gene affects males more severely and more frequently than females. Am J Med Genet 1998: 77: 155-161.
21. van der Maarel SM, Deidda G, Lemmers RJ et al. De novo facioscapulohumeral muscular dystrophy: Frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10. Am J Hum Genet 2000: 66: 26-35.
22. Felice KJ, North WA, Moore SA, Mathews KD. FSH dystrophy 4q35 deletion in patients presenting with facial-sparing scapular myopathy. Neurology 2000: 54: 1927-1931.