Abnormal expression of dysferlin in skeletal muscle and monocytes supports primary dysferlinopathy in patients with one mutated allele

European Journal of Neurology

Volumn 18, Issue 7, 2011, Pages 1021-1023

  Meznaric, M ^a   Gonzalez Quereda, L ^b   Gallardo, E ^b   de Luna, N ^b   Gallano, P ^b   Fanin, M ^c   Angelini, C ^c   Peterlin, B ^d   Zidar, J ^d  

^a UNIVERSITY OF LJUBLJANA   (Slovenia)

^b UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^c UNIVERSITY OF PADOVA   (Italy)

^d UNIVERSITY MEDICAL CENTRE LJUBLJANA   (Slovenia)

Author keywords

Dysferlin mRNA; Dysferlinopathy; Heterozygous state; Miyoshi myopathy

Indexed keywords

COMPLEMENTARY DNA; DYSFERLIN; GENOMIC DNA; MESSENGER RNA;

ADULT; ALLELE; ARTICLE; CASE REPORT; DISTAL MYOPATHY; DNA SEQUENCE; DYSFERLINOPATHY; FEMALE; GENE MUTATION; HETEROZYGOTE; HUMAN; LIMB WEAKNESS; MALE; MONOCYTE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PERIPHERAL BLOOD MONOCYTE; PRIORITY JOURNAL; PROTEIN EXPRESSION; REAL TIME POLYMERASE CHAIN REACTION; SKELETAL MUSCLE; WESTERN BLOTTING;

EID: 79958853163     PISSN: 13515101     EISSN: 14681331     Source Type: Journal    
DOI: 10.1111/j.1468-1331.2010.03240.x     Document Type: Article

References (12)

1. Fanin M, Pegoraro E, Matsuda-Asada C, Brown RH Jr, Angelini C. Calpain-3 and dysferlin protein screening in patients with limb-girdle dystrophy and myopathy. Neurology 2001; 56: 660-665.
2. Vainzof M, Anderson LV, McNally EM, et al. Dysferlin protein analysis in limb-girdle muscular dystrophies. J Mol Neurosci 2001; 17: 71-80.
3. Ho M, Gallardo E, McKenna-Yasek D, de Luna N, Illa I, Brown RH Jr. A novel, blood-based diagnostic assay for limb girdle muscular dystrophy 2B and Miyoshi myopathy. Ann Neurol 2002; 51: 129-133.
4. de Luna N, Freixas A, Gallano P, et al. Dysferlin expression in monocytes: a source of mRNA for mutation analysis. Neuromuscular Disord 2007; 17: 69-76.
5. Illa I, de Luna N, Dominguez-Perles R, et al. Symptomatic dysferlin gene mutation carriers: characterization of two cases. Neurology 2007; 68: 1284-1289.
6. Fuschillo S, Torrente Y, Balzano G. Severe respiratory and skeletal muscles involvement in a carrier of dysferlinopathy with chronic obstructive pulmonary disease. Respir Care 2010; 55: 1091-1093.
7. Fanin M, Nascimbeni AC, Angelini C. Muscle protein analysis in the detection of heterozygotes for recessive limb girdle muscular dystrophy type 2B and 2E. Neuromuscular Disord 2006; 16: 792-799.
8. Nguyen K, Bassez G, Bernard R, et al. Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies. Hum Mutat 2005; 26: 165.
9. MRC-Holland. (accessed 17/06/2010)
10. den Dunnen J. (accessed 19/06/2010)
11. Gal A, Siska E, Nagy Z, Karpati G, Molnar MJ. Challenges for the genetic screening in dysferlin deficiency - report of an instructive case and review of the literature. Clin Neuropathol 2008; 27: 289-294.
12. Aartsma-Rus A, Singh K, Fokkema I, et al. Therapeutic exon skipping for dysferlinopathies? Eur J Hum Genet 2010; 18: 889-894.