facioscapulohumeral muscular dystrophy

Summary

Summary: An autosomal dominant degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles. (Neuromuscul Disord 1997;7(1):55-62; Adams et al., Principles of Neurology, 6th ed, p1420)

Top Publications

  1. Kalkman J, Schillings M, Zwarts M, van Engelen B, Bleijenberg G. Psychiatric disorders appear equally in patients with myotonic dystrophy, facioscapulohumeral dystrophy, and hereditary motor and sensory neuropathy type I. Acta Neurol Scand. 2007;115:265-70 pubmed
    ..questionnaires in a large sample of patients with adult-onset myotonic dystrophy (DM), facioscapulohumeral muscular dystrophy (FSHD), and hereditary motor and sensory neuropathy type I (HMSN-I), and to assess whether ..
  2. Kalkman J, Schillings M, Zwarts M, van Engelen B, Bleijenberg G. The development of a model of fatigue in neuromuscular disorders: a longitudinal study. J Psychosom Res. 2007;62:571-9 pubmed
    ..Severe fatigue is reported by the majority of patients with three relatively common types of neuromuscular disorders...
  3. de Greef J, Wohlgemuth M, Chan O, Hansson K, Smeets D, Frants R, et al. Hypomethylation is restricted to the D4Z4 repeat array in phenotypic FSHD. Neurology. 2007;69:1018-26 pubmed
    Patients with facioscapulohumeral muscular dystrophy (FSHD) show a contraction of the D4Z4 repeat array in the subtelomere of chromosome 4q...
  4. Lemmers R, Wohlgemuth M, Frants R, Padberg G, Morava E, van der Maarel S. Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy. Am J Hum Genet. 2004;75:1124-30 pubmed
    b>Facioscapulohumeral muscular dystrophy (FSHD) is associated with contractions of the D4Z4 repeat in the subtelomere of chromosome 4q. Two allelic variants of chromosome 4q (4qA and 4qB) exist in the region distal to D4Z4...
  5. Bosnakovski D, Xu Z, Gang E, Galindo C, Liu M, Simsek T, et al. An isogenetic myoblast expression screen identifies DUX4-mediated FSHD-associated molecular pathologies. EMBO J. 2008;27:2766-79 pubmed publisher
    b>Facioscapulohumeral muscular dystrophy (FSHD) is caused by an unusual deletion with neomorphic activity...
  6. van der Kooi E, Kalkman J, Lindeman E, Hendriks J, van Engelen B, Bleijenberg G, et al. Effects of training and albuterol on pain and fatigue in facioscapulohumeral muscular dystrophy. J Neurol. 2007;254:931-40 pubmed
    ..on the efficacy of strength training and the beta2-adrenergic agonist albuterol in patients with facioscapulohumeral muscular dystrophy (FSHD)...
  7. Schepelmann K, Winter Y, Spottke A, Claus D, Grothe C, Schroder R, et al. Socioeconomic burden of amyotrophic lateral sclerosis, myasthenia gravis and facioscapulohumeral muscular dystrophy. J Neurol. 2010;257:15-23 pubmed publisher
    ..Patients (n = 107) with amyotrophic lateral sclerosis (ALS), myasthenia gravis (MG) or facioscapulohumeral muscular dystrophy (FSHD) were recruited consecutively in seven centers in Germany...
  8. Goto K, Nishino I, Hayashi Y. Very low penetrance in 85 Japanese families with facioscapulohumeral muscular dystrophy 1A. J Med Genet. 2004;41:e12 pubmed
  9. van Geel M, Heather L, Lyle R, Hewitt J, Frants R, de Jong P. The FSHD region on human chromosome 4q35 contains potential coding regions among pseudogenes and a high density of repeat elements. Genomics. 1999;61:55-65 pubmed
    The distal end of chromosome 4q contains the locus involved in facioscapulohumeral muscular dystrophy (FSHD1)...

More Information

Publications62

  1. Buzhov B, Lemmers R, Tournev I, Dikova C, Kremensky I, Petrova J, et al. Genetic confirmation of facioscapulohumeral muscular dystrophy in a case with complex D4Z4 rearrangments. Hum Genet. 2005;116:262-6 pubmed
    b>Facioscapulohumeral muscular dystrophy (FSHD) is caused by contraction of the D4Z4 repeat on chromosome 4q...
  2. Colson S, Benchortane M, Tanant V, Faghan J, Fournier Mehouas M, Benaim C, et al. Neuromuscular electrical stimulation training: a safe and effective treatment for facioscapulohumeral muscular dystrophy patients. Arch Phys Med Rehabil. 2010;91:697-702 pubmed publisher
    To investigate the feasibility, safety, and effectiveness of neuromuscular electrical stimulation (NMES) strength training in facioscapulohumeral muscular dystrophy (FSHD) patients.
  3. Reed P, Corse A, Porter N, Flanigan K, Bloch R. Abnormal expression of mu-crystallin in facioscapulohumeral muscular dystrophy. Exp Neurol. 2007;205:583-6 pubmed
    To identify proteins expressed abnormally in facioscapulohumeral muscular dystrophy (FSHD), we extracted soluble proteins from deltoid muscle biopsies from unaffected control and FSHD patients and analyzed them using two-dimensional ..
  4. Masny P, Bengtsson U, Chung S, Martin J, van Engelen B, van der Maarel S, et al. Localization of 4q35.2 to the nuclear periphery: is FSHD a nuclear envelope disease?. Hum Mol Genet. 2004;13:1857-71 pubmed
    b>Facioscapulohumeral muscular dystrophy (FSHD) may be a new member of the class of neuromuscular diseases (NMD) due to defects in the nuclear envelope...
  5. Lemmers R, Van Overveld P, Sandkuijl L, Vrieling H, Padberg G, Frants R, et al. Mechanism and timing of mitotic rearrangements in the subtelomeric D4Z4 repeat involved in facioscapulohumeral muscular dystrophy. Am J Hum Genet. 2004;75:44-53 pubmed
    Autosomal dominant facioscapulohumeral muscular dystrophy (FSHD1A) is associated with contractions of the polymorphic D4Z4 repeat on chromosome 4qter...
  6. Rhee Y, Ha J. Long-term results of scapulothoracic arthrodesis of facioscapulohumeral muscular dystrophy. J Shoulder Elbow Surg. 2006;15:445-50 pubmed
    Many patients with facioscapulohumeral muscular dystrophy eventually have instability of the scapula resulting from weakness of the scapula stabilizers...
  7. Tsuji M, Kinoshita M, Imai Y, Kawamoto M, Kohara N. Facioscapulohumeral muscular dystrophy presenting with hypertrophic cardiomyopathy: a case study. Neuromuscul Disord. 2009;19:140-2 pubmed publisher
    Only three facioscapulohumeral muscular dystrophy (FSHD) patients have been reported to have cardiomyopathy. An asymptomatic 38-year-old man was incidentally found to have electrocardiographic abnormalities...
  8. Celegato B, Capitanio D, Pescatori M, Romualdi C, Pacchioni B, Cagnin S, et al. Parallel protein and transcript profiles of FSHD patient muscles correlate to the D4Z4 arrangement and reveal a common impairment of slow to fast fibre differentiation and a general deregulation of MyoD-dependent genes. Proteomics. 2006;6:5303-21 pubmed
  9. van der Maarel S, Frants R, Padberg G. Facioscapulohumeral muscular dystrophy. Biochim Biophys Acta. 2007;1772:186-94 pubmed
    b>Facioscapulohumeral muscular dystrophy (FSHD) is caused by a cascade of epigenetic events following contraction of the polymorphic macrosatellite repeat D4Z4 in the subtelomere of chromosome 4q...
  10. Dixit M, Ansseau E, Tassin A, Winokur S, Shi R, Qian H, et al. DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1. Proc Natl Acad Sci U S A. 2007;104:18157-62 pubmed
    b>Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant disorder linked to contractions of the D4Z4 repeat array in the subtelomeric region of chromosome 4q...
  11. Kalkman J, Schillings M, Zwarts M, van Engelen B, Bleijenberg G. Influence of relatives on fatigue experienced by patients with facioscapulohumeral dystrophy, myotonic dystrophy and HMSN-I. Eur Neurol. 2006;56:24-30 pubmed
    ..Fatigue is a common symptom experienced by patients with various neuromuscular disorders. The purpose of this study was to assess the influence of relatives on fatigue experienced by patients with various neuromuscular disorders...
  12. Goto K, Nishino I, Hayashi Y. Rapid and accurate diagnosis of facioscapulohumeral muscular dystrophy. Neuromuscul Disord. 2006;16:256-61 pubmed
    b>Facioscapulohumeral muscular dystrophy (FSHD) is a common muscular disorder, but clinical and genetic complications make its diagnosis difficult...
  13. Bodega B, Cardone M, Muller S, Neusser M, Orzan F, Rossi E, et al. Evolutionary genomic remodelling of the human 4q subtelomere (4q35.2). BMC Evol Biol. 2007;7:39 pubmed
    In order to obtain insights into the functionality of the human 4q35.2 domain harbouring the facioscapulohumeral muscular dystrophy (FSHD) locus, we investigated in African apes genomic and chromatin organisations, and the nuclear ..
  14. Kekou K, Fryssira H, Sophocleous C, Mavrou A, Manta P, Metaxotou C. Facioscapulohumeral muscular dystrophy molecular testing using a non radioactive protocol. Mol Cell Probes. 2005;19:422-4 pubmed
    Although the facioscapulohumeral muscular dystrophy (FSHD) locus was mapped to 4q35 chromosomal region in 1990, no gene transcript has been as yet identified. Molecular diagnosis is based mainly on the detection of deletions of a 3...
  15. Trevisan C, Pastorello E, Ermani M, Angelini C, Tomelleri G, Tonin P, et al. Facioscapulohumeral muscular dystrophy: a multicenter study on hearing function. Audiol Neurootol. 2008;13:1-6 pubmed
    b>Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant progressive myopathy, characteristically associated with a 4q35 deletion...
  16. Mostacciuolo M, Pastorello E, Vazza G, Miorin M, Angelini C, Tomelleri G, et al. Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample. Clin Genet. 2009;75:550-5 pubmed publisher
    b>Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant disease associated with a partial deletion on chromosome 4q35...
  17. Wuebbles R, Hanel M, Jones P. FSHD region gene 1 (FRG1) is crucial for angiogenesis linking FRG1 to facioscapulohumeral muscular dystrophy-associated vasculopathy. Dis Model Mech. 2009;2:267-74 pubmed publisher
    The genetic lesion that is diagnostic for facioscapulohumeral muscular dystrophy (FSHD) results in an epigenetic misregulation of gene expression, which ultimately leads to the disease pathology...
  18. Lemmers R, Osborn M, Haaf T, Rogers M, Frants R, Padberg G, et al. D4F104S1 deletion in facioscapulohumeral muscular dystrophy: phenotype, size, and detection. Neurology. 2003;61:178-83 pubmed
    The facioscapulohumeral muscular dystrophy (FSHD) locus maps to 4q35 where it is closely linked to D4F104S1 (p13E-11), a probe that recognizes the pathognomonic FSHD deletion involving the subtelomeric D4Z4 tandem repeat array...
  19. Uncini A, Galluzzi G, Di Muzio A, De Angelis M, Ricci E, Scoppetta C, et al. Facioscapulohumeral muscular dystrophy presenting isolated monomelic lower limb atrophy. Report of two patients with and without 4q35 rearrangement. Neuromuscul Disord. 2002;12:874-7 pubmed
    b>Facioscapulohumeral muscular dystrophy has a distinctive regional distribution but variable clinical expression and may be markedly asymmetrical. We report two patients presenting weakness and wasting confined to a single lower limb...
  20. Sirvent N, Trassard M, Ebran N, Attias R, Pedeutour F. Fusion of EWSR1 with the DUX4 facioscapulohumeral muscular dystrophy region resulting from t(4;22)(q35;q12) in a case of embryonal rhabdomyosarcoma. Cancer Genet Cytogenet. 2009;195:12-8 pubmed publisher
    ..The involvement of the DUX4 region might represent the genetic hallmark of a novel subclass of small round cell tumors...
  21. Felice K, Moore S. Unusual clinical presentations in patients harboring the facioscapulohumeral dystrophy 4q35 deletion. Muscle Nerve. 2001;24:352-6 pubmed
    ..This report demonstrates the expanding clinical heterogeneity in patients harboring the 4q35 deletion...
  22. van der Maarel S, Deidda G, Lemmers R, van Overveld P, van der Wielen M, Hewitt J, 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 pubmed
    Autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) is caused by deletion of most copies of the 3.3-kb subtelomeric D4Z4 repeat array on chromosome 4q...
  23. Zouvelou V, Manta P, Kalfakis N, Evdokimidis I, Vassilopoulos D. Asymptomatic elevation of serum creatine kinase leading to the diagnosis of 4q35 facioscapulohumeral muscular dystrophy. J Clin Neurosci. 2009;16:1218-9 pubmed publisher
    ..However, the clinical spectrum of facioscapulohumeral muscular dystrophy (FSHD) ranges from asymptomatic individuals with minimal clinical signs to patients who are ..
  24. Deak K, Lemmers R, Stajich J, Klooster R, Tawil R, Frants R, et al. Genotype-phenotype study in an FSHD family with a proximal deletion encompassing p13E-11 and D4Z4. Neurology. 2007;68:578-82 pubmed
    In the majority of facioscapulohumeral muscular dystrophy (FSHD) cases, the molecular basis of the disease is due to loss of subtelomeric D4Z4 repeat units at 4q35...
  25. Bodega B, Ramirez G, Grasser F, Cheli S, Brunelli S, Mora M, et al. Remodeling of the chromatin structure of the facioscapulohumeral muscular dystrophy (FSHD) locus and upregulation of FSHD-related gene 1 (FRG1) expression during human myogenic differentiation. BMC Biol. 2009;7:41 pubmed publisher
    b>Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant neuromuscular disorder associated with the partial deletion of integral numbers of 3.3 kb D4Z4 DNA repeats within the subtelomere of chromosome 4q...
  26. Thomas N, Wiseman K, Spurlock G, Macdonald M, Ustek D, Upadhyaya M. A large patient study confirming that facioscapulohumeral muscular dystrophy (FSHD) disease expression is almost exclusively associated with an FSHD locus located on a 4qA-defined 4qter subtelomere. J Med Genet. 2007;44:215-8 pubmed
    b>Facioscapulohumeral muscular dystrophy (FSHD), an autosomal dominant disorder, represents the third most common human muscular dystrophy...
  27. Lemmers RJL -, de Kievit P, van Geel M, van der Wielen M, Bakker E, Padberg G, et al. Complete allele information in the diagnosis of facioscapulohumeral muscular dystrophy by triple DNA analysis. Ann Neurol. 2001;50:816-9 pubmed
    b>Facioscapulohumeral muscular dystrophy is caused by partial deletion of the D4Z4 repeat array on chromosome 4q35...
  28. Vilquin J. Myoblast transplantation: clinical trials and perspectives. Mini-review. Acta Myol. 2005;24:119-27 pubmed
    ..Some solutions are emerging, which recently allowed the set-up of new clinical trials in dedicated indications...
  29. Tawil R, van der Maarel S. Facioscapulohumeral muscular dystrophy. Muscle Nerve. 2006;34:1-15 pubmed
    b>Facioscapulohumeral muscular dystrophy (FSHD) is a dominantly inherited disorder with an initially restricted pattern of weakness...
  30. Buzhov B, Lemmers R, Tournev I, van der Wielen M, Ishpekova B, Petkov R, et al. Recurrent somatic mosaicism for D4Z4 contractions in a family with facioscapulohumeral muscular dystrophy. Neuromuscul Disord. 2005;15:471-5 pubmed
    Autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) is caused by contraction of the D4Z4 repeat on 4q35...
  31. Chuenkongkaew W, Lertrit P, Limwongse C, Nilanont Y, Boonyapisit K, Sangruchi T, et al. An unusual family with Leber's hereditary optic neuropathy and facioscapulohumeral muscular dystrophy. Eur J Neurol. 2005;12:388-91 pubmed
    ..b>Facioscapulohumeral muscular dystrophy (FSHD) DNA analysis was performed in four members who had visual loss...
  32. van der Kooi A, Visser M, Rosenberg N, Van den Berg Vos R, Wokke J, Bakker E, et al. Extension of the clinical range of facioscapulohumeral dystrophy: report of six cases. J Neurol Neurosurg Psychiatry. 2000;69:114-6 pubmed
    ..In conclusion, the clinical expression of FSHD is much broader than indicated by the nomenclature. The possibility to perform DNA tests is likely to greatly expand the clinical range of FSHD...
  33. Di Lazzaro V, Oliviero A, Tonali P, Felicetti L, De Marco M, Saturno E, et al. Changes in motor cortex excitability in facioscapulohumeral muscular dystrophy. Neuromuscul Disord. 2004;14:39-45 pubmed
    Previous studies found that some patients with severe, early onset facioscapulohumeral muscular dystrophy (FSHD) present epilepsy and mental retardation. This suggests a functional involvement of central nervous system in severe FSHD...
  34. Tsumagari K, Qi L, Jackson K, Shao C, Lacey M, Sowden J, et al. Epigenetics of a tandem DNA repeat: chromatin DNaseI sensitivity and opposite methylation changes in cancers. Nucleic Acids Res. 2008;36:2196-207 pubmed publisher
    ..was a barrier to hypermethylation spreading to the beginning of this disease-associated array (facioscapulohumeral muscular dystrophy, FSHD) despite sequence conservation in repeat units throughout the array...
  35. van der Kooi E, Vogels O, van Asseldonk R, Lindeman E, Hendriks J, Wohlgemuth M, et al. Strength training and albuterol in facioscapulohumeral muscular dystrophy. Neurology. 2004;63:702-8 pubmed
    ..In patients with facioscapulohumeral muscular dystrophy (FSHD) albuterol may exert anabolic effects...
  36. Horlings C, Munneke M, Bickerstaffe A, Laverman L, Allum J, Padberg G, et al. Epidemiology and pathophysiology of falls in facioscapulohumeral disease. J Neurol Neurosurg Psychiatry. 2009;80:1357-63 pubmed publisher
    ..Here falls in patients with facioscapulohumeral disease (FSHD) who suffered from lower limb muscle weakness were examined. This study provides insights into the prevalence, relevance and pathophysiology of falls in FSHD...
  37. Padberg G, van Engelen B. Facioscapulohumeral muscular dystrophy. Curr Opin Neurol. 2009;22:539-42 pubmed publisher
    Knowledge of the pathogenetic mechanisms in facioscapulohumeral muscular dystrophy is still scattered, but has recently been advanced through novel developments on the genetic scientific front.
  38. Olsen D, Gideon P, Jeppesen T, Vissing J. Leg muscle involvement in facioscapulohumeral muscular dystrophy assessed by MRI. J Neurol. 2006;253:1437-41 pubmed
    ..the degree of involvement of muscles in the lower extremities of 18 unselected patients with facioscapulohumeral muscular dystrophy (FSHD)...
  39. van Geel M, Dickson M, Beck A, Bolland D, Frants R, van der Maarel S, et al. Genomic analysis of human chromosome 10q and 4q telomeres suggests a common origin. Genomics. 2002;79:210-7 pubmed
    The subtelomeric region of human chromosome 4q contains the locus for facioscapulohumeral muscular dystrophy (FSHD). The FSHD mutation is a deletion within an array of 3.3-kb tandem repeats (D4Z4)...
  40. Jiang G, Yang F, Van Overveld P, Vedanarayanan V, van der Maarel S, Ehrlich M. Testing the position-effect variegation hypothesis for facioscapulohumeral muscular dystrophy by analysis of histone modification and gene expression in subtelomeric 4q. Hum Mol Genet. 2003;12:2909-21 pubmed
    b>Facioscapulohumeral muscular dystrophy (FSHD) is a unique dominant disorder involving shortening of an array of tandem 3.3 kb repeats...
  41. Quarantelli M, Lanzillo R, Del Vecchio W, Mollica C, Prinster A, Iadicicco L, et al. Modifications of brain tissue volumes in facioscapulohumeral dystrophy. Neuroimage. 2006;32:1237-42 pubmed
    b>Facioscapulohumeral muscular dystrophy (FSHD), a pathology primarily characterized by involvement of the muscles in the face, shoulder and upper arm, can be associated to several CNS disorders, including sensorineural hearing deficits, ..
  42. Wohlgemuth M, Lemmers R, van der Kooi E, van der Wielen M, van Overveld P, Dauwerse H, et al. Possible phenotypic dosage effect in patients compound heterozygous for FSHD-sized 4q35 alleles. Neurology. 2003;61:909-13 pubmed
    Autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) is associated with a contraction of the D4Z4 repeat array on chromosome 4...
  43. Krasnianski M, Eger K, Neudecker S, Jakubiczka S, Zierz S. Atypical phenotypes in patients with facioscapulohumeral muscular dystrophy 4q35 deletion. Arch Neurol. 2003;60:1421-5 pubmed
    b>Facioscapulohumeral muscular dystrophy (FSHD) is associated with a deletion on chromosome 4q35...
  44. Tonini M, Passos Bueno M, Cerqueira A, Matioli S, Pavanello R, Zatz M. Asymptomatic carriers and gender differences in facioscapulohumeral muscular dystrophy (FSHD). Neuromuscul Disord. 2004;14:33-8 pubmed
    b>Facioscapulohumeral muscular dystrophy is an autosomal dominant muscle disorder, mapped to 4q35. It is characterized by remarkable inter- and intrafamilial clinical variability ranging from severe phenotype to asymptomatic carriers...
  45. Hanel M, Wuebbles R, Jones P. Muscular dystrophy candidate gene FRG1 is critical for muscle development. Dev Dyn. 2009;238:1502-12 pubmed publisher
    The leading candidate gene responsible for facioscapulohumeral muscular dystrophy (FSHD) is FRG1 (FSHD region gene 1)...
  46. Petrov A, Pirozhkova I, Carnac G, Laoudj D, Lipinski M, Vassetzky Y. Chromatin loop domain organization within the 4q35 locus in facioscapulohumeral dystrophy patients versus normal human myoblasts. Proc Natl Acad Sci U S A. 2006;103:6982-7 pubmed
    ..We propose a model whereby the nuclear scaffold/matrix attached region regulates chromatin accessibility and expression of genes implicated in the genesis of FSHD...
  47. Klinge L, Eagle M, Haggerty I, Roberts C, Straub V, Bushby K. Severe phenotype in infantile facioscapulohumeral muscular dystrophy. Neuromuscul Disord. 2006;16:553-8 pubmed
    ..However, our data also suggest that the risk to an individual with classical FSHD of having a child with the infantile form is low...
  48. Tam R, Smith K, Lawrence J. The 4q subtelomere harboring the FSHD locus is specifically anchored with peripheral heterochromatin unlike most human telomeres. J Cell Biol. 2004;167:269-79 pubmed
    ..Furthermore, D4Z4 repeats on other chromosomes also frequently organize with the heterochromatic compartment at the nuclear or nucleolar periphery, demonstrating a commonality among chromosomes harboring this subtelomere repeat family...
  49. Morosetti R, Mirabella M, Gliubizzi C, Broccolini A, Sancricca C, Pescatori M, et al. Isolation and characterization of mesoangioblasts from facioscapulohumeral muscular dystrophy muscle biopsies. Stem Cells. 2007;25:3173-82 pubmed
    b>Facioscapulohumeral muscular dystrophy (FSHD) is the third most frequent inherited muscle disease...
  50. Winokur S, Barrett K, Martin J, Forrester J, Simon M, Tawil R, et al. Facioscapulohumeral muscular dystrophy (FSHD) myoblasts demonstrate increased susceptibility to oxidative stress. Neuromuscul Disord. 2003;13:322-33 pubmed
    b>Facioscapulohumeral muscular dystrophy is an autosomal dominant disorder resulting from an unusual genetic mechanism. The mutation, a deletion of 3...
  51. Gabellini D, D Antona G, Moggio M, Prelle A, Zecca C, Adami R, et al. Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1. Nature. 2006;439:973-7 pubmed
    b>Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant neuromuscular disorder that is not due to a classical mutation within a protein-coding gene...
  52. Macaione V, Aguennouz M, Rodolico C, Mazzeo A, Patti A, Cannistraci E, et al. RAGE-NF-kappaB pathway activation in response to oxidative stress in facioscapulohumeral muscular dystrophy. Acta Neurol Scand. 2007;115:115-21 pubmed
    An increased expression of adenine nucleotide translocator (ANT1), found in facioscapulohumeral muscular dystrophy (FSHD), is known to lead to a decrease in nuclear factor-kappaB (NF-kappaB) DNA binding and to sensitize muscle cells to ..
  53. de Greef J, Lemmers R, CamaƱo P, Day J, Sacconi S, Dunand M, et al. Clinical features of facioscapulohumeral muscular dystrophy 2. Neurology. 2010;75:1548-54 pubmed publisher
    In some 5% of patients with facioscapulohumeral muscular dystrophy (FSHD), no D4Z4 repeat contraction on chromosome 4q35 is observed...