Distal Myopathies

Papers of particular interest, published recently, have been highlighted as: •• Of major importance

1. 1.
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14. 14.
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15. 15.
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16. 16.
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18. 18.
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19. 19.••
    Hackman P, Sarparanta J, Lehtinen S, et al. Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1. Ann Neurol. 2012 Dec 13 [Epub ahead of print]. WDM is the hallmark disease for distal myopathies. Linkage of the disease to chromosome 2p was achieved more than 10 years ago and now, finally, the causative gene was identified. The TIA1 gene is not a typical muscle gene at all, and the protein is involved in complex RNA metabolism.Google Scholar
20. 20.••
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21. 21.
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22. 22.
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24. 24.
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25. 25.
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26. 26.
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27. 27.
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28. 28.
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29. 29.
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32. 32.
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34. 34.
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36. 36.
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37. 37.
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38. 38.
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40. 40.
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41. 41.
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42. 42.
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43. 43.
    Reichlich P, Schoser B, Schramm N, et al. The p.G154S mutation of the alpha-B crystallin gene (CRYAB) causes late-onset distal myopathy. Neuromuscul Disord. 2010;20:255–9.CrossRefGoogle Scholar
44. 44.
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45. 45.
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46. 46.
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47. 47.
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48. 48.••
    Duff R, Tay V, Hackman P, et al. Mutations in the N-terminal actin-binding domain of filamin C (FLNC) cause a distinct distal myopathy. Am J Hum Genet. 2011;88:729–40. The authors have identified a completely new type of distal myopathy. Mutations in FLNC are previously known to cause myofibrillar myopathology with a rather generalised late-onset proximo-distal and axial clinical phenotype of muscle weakness. The mutations causing this new type of disease do not result in myofibrillar myopathology, and this difference is related to the mutations being located in the N-terminal actin binding domain of Filamin-C.PubMedCentralPubMedCrossRefGoogle Scholar
49. 49.
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50. 50.
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51. 51.
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52. 52.
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53. 53.
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54. 54.
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55. 55.
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56. 56.
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57. 57.
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58. 58.
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    Bolduc V, Marlow G, Boycott KM, et al. Recessive mutations in the putative calcium-activated chloride channel anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. Am J Hum Genet. 2010;86:213–21.PubMedCentralPubMedCrossRefGoogle Scholar
60. 60.••
    Penttilä S, Palmio J, Suominen T, et al. Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5. Neurology. 2012;78:897–903. The paper describes in good detail the large variation of clinical presentations and disease evolutions involved with anoctaminopathy, including muscle MRI studies. Late-onset proximal limb-girdle muscular dystrophy is more common than early adult-onset distal myopathy. Anoctaminopathy has also been confused with polymyositis.PubMedCrossRefGoogle Scholar
61. 61.
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62. 62.
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63. 63.
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64. 64.
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65. 65.
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66. 66.
    Linssen WH, de Visser M, Notermans NC, et al. Genetic heterogeneity in Miyoshi-type distal muscular dystrophy. Neuromuscul Disord. 1998;8:317–20.PubMedCrossRefGoogle Scholar
67. 67.••
    Evilä A, Vihola A, Sarparanta J, et al. Atypical phenotypes in titinopathies explained by second titin mutations and compound heterozygosity. Ann Neurol. 2014 Jan 7 [Epub ahead of print]. The paper opens a new perspective on the phenotype variations repeatedly reported in families with the identical gene mutation in muscular dystrophy. With the example of titinopathy, the authors show that atypical, complex and new phenotypes are associated with second gene mutations on top of a previously well known gene mutation.Google Scholar