Clinical features of facioscapulohumeral muscular dystrophy 2

Neurology

Volumn 75, Issue 17, 2010, Pages 1548-1554

  De Greef, J C ^a   Lemmers, R J L F ^a   Camano P ^b,c   Day, J W ^d   Sacconi, S ^e   Dunand, M ^f   Van Engelen, B G M ^g   Kiuru Enari, S ^h   Padberg, G W ^g   Rosa, A L ⁱ   Desnuelle, C ^e   Spuler, S ^j   Tarnopolsky, M ^k   Venance, S L ^l   Frants, R R ^a   Van Der Maarel, S M ^a   Tawil, R ^m  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b BIODONOSTIA HEALTH RESEARCH INSTITUTE   (Spain)

^c INSTITUTO DE SALUD CARLOS III   (Spain)

^d UNIVERSITY OF MINNESOTA   (United States)

^e UNIVERSITÉ CÔTE D'AZUR   (France)

^f LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^g RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^h HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

ⁱ Sanatorio Allende   (Argentina)

^j CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^k MCMASTER UNIVERSITY   (Canada)

^l LONDON HEALTH SCIENCES CENTRE   (Canada)

^m UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 10Q; CHROMOSOME 4Q; CLINICAL ARTICLE; CLINICAL EXAMINATION; CLINICAL FEATURE; CROSS-SECTIONAL STUDY; DISEASE SEVERITY; DNA METHYLATION; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FAMILY HISTORY; FEMALE; GENOTYPE; HIP DISEASE; HUMAN; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PULSED FIELD GEL ELECTROPHORESIS; SCAPULA; SEX DIFFERENCE; SOUTHERN BLOTTING; WEAKNESS;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 4; COHORT STUDIES; CROSS-SECTIONAL STUDIES; DNA METHYLATION; DNA REPEAT EXPANSION; FAMILY HEALTH; FEMALE; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MIDDLE AGED; MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL; NUCLEAR PROTEINS; PHENOTYPE; POLYMORPHISM, GENETIC; YOUNG ADULT;

EID: 78149236255     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3181f96175     Document Type: Article

References (24)

1. Padberg GW. Facioscapulohumeral Disease [PhD thesis]. Leiden: Leiden University; 1982.
2. Eger K, Jordan B, Habermann S, Zierz S. Beevor's sign in facioscapulohumeral muscular dystrophy: an old sign with new implications. J Neurol 2010;257:436-438.
3. Padberg GW, Brouwer OF, de Keizer RJ, et al. On the significance of retinal vascular disease and hearing loss in facioscapulohumeral muscular dystrophy. Muscle Nerve 1995;2:S73-S80.
4. Wijmenga C, Hewitt JE, Sandkuijl LA, et al. Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nat Genet 1992;2:26-30.
5. van Deutekom JC, Wijmenga C, van Tienhoven EA, et al. FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit. Hum Mol Genet 1993;2:2037-2042.
6. Lemmers RJ, Wohlgemuth M, van der Gaag KJ, et al. Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy. Am J Hum Genet 2007;81:884-894.
7. Van Overveld PG, Lemmers RJ, Sandkuijl LA, et al. Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy. Nat Genet 2003;35:315-317.
8. Zeng W, de Greef JC, Chen YY, et al. Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD). PLoS Genet 2009;5: e1000559.
9. de Greef JC, Wohlgemuth M, Chan OA, et al. Hypomethylation is restricted to the D4Z4 repeat array in phenotypic FSHD. Neurology 2007;69:1018-1026.
10. de Greef JC, Lemmers RJ, van Engelen BG, et al. Common epigenetic changes of D4Z4 in contractiondependent and contraction-independent FSHD. Hum Mutat 2009;30:1449-1459.
11. Ricci E, Galluzzi G, Deidda G, et al. Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype. Ann Neurol 1999;45:751-757.
12. Tawil R, McDermott MP, Mendell JR, Kissel J, Griggs RC. Facioscapulohumeral muscular dystrophy (FSHD): design of natural history study and results of baseline testing: FSH-DY Group. Neurology 1994;44:442-446.
13. Lemmers RJ, de Kievit P, Sandkuijl L, et al. Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere. Nat Genet 2002;32:235-236.
14. Shahrizaila N, Wills AJ. Significance of Beevor's sign in facioscapulohumeral dystrophy and other neuromuscular diseases. J Neurol Neurosurg Psychiatry 2005;76:869-870.
15. Padua L, Aprile I, Frusciante R, et al. Quality of life and pain in patients with facioscapulohumeral muscular dystrophy. Muscle Nerve 2009;40:200-205.
16. Lunt PW, Jardine PE, Koch MC, et al. Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD). Hum Mol Genet 1995;4:951-958.
17. Tawil R, Forrester J, Griggs RC, et al. Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy: The FSH-DY Group. Ann Neurol 1996;39:744-748.
18. Van Overveld PG, Enthoven L, Ricci E, et al. Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy. Ann Neurol 2005;58:569-576.
19. Wohlgemuth M, Lemmers RJ, van der Kooi EL, et al. Possible phenotypic dosage effect in patients compound heterozygous for FSHD-sized 4q35 alleles. Neurology 2003;61:909-913.
20. Tonini MM, Pavanello RC, Gurgel-Giannetti J, et al. Homozygosity for autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) does not result in a more severe phenotype. J Med Genet 2004;41: e17.
21. 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.
22. 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.
23. Padberg GW, Lunt PW, Koch M, Fardeau M. Diagnostic criteria for facioscapulohumeral muscular dystrophy. Neuromuscul Disord 1991;1:231-234.
24. Tonini MM, 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.