Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies

Neurology

Volumn 75, Issue 4, 2010, Pages 316-323

  Paradas, C ^a,f   Llauger, J ^b   Diaz Manera, J ^c,f   Rojas Garcia R ^c,f   De Luna, N ^c,f   Iturriaga, C ^c   Marquez C ^a   Uson M ^d   Hankiewicz, K ^c   Gallardo, E ^c,f   Illa, I ^c,e,f  

^a HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^b Departments of Radiology and Neurology   (Germany)

^c HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

^d HOSPITAL SON LLÀTZER   (Spain)

^e UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^f CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED SOBRE ENFERMEDADES NEURODEGENERATIVAS CIBERNED   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

DYSFERLIN;

ADULT; ARTICLE; CLINICAL ARTICLE; CLINICAL EXAMINATION; CREATINE KINASE BLOOD LEVEL; DISEASE COURSE; DYSF GENE; DYSFERLINOPATHY; FEMALE; GENE; GENE MUTATION; GENOTYPE; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; MIYOSHI MYOPATHY; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PROGNOSIS;

EID: 77955159118     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3181ea1564     Document Type: Article

References (38)

1. Liu J, Aoki M, Illa I, et al. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet 1998;20:31-36.
2. Bashir R, Britton S, Strachan T, et al. A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nat Genet 1998;20:37-42.
3. Miyoshi K, Iwasa M, Kawai H, et al. Autosomal recessive distal muscular dystrophy: a new type of distal muscular dystrophy observed characteristically in Japan. Jpn J Clin Med 1977;35:3922-3928.
4. Illarioshkin SN, Ivanova-Smolenskaya IA, Greenberg CR, et al. Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy. Neurology 2000; 55:1931-1933.
5. Vilchez JJ, Gallano P, Gallardo E, et al. Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population. Arch Neurol 2005; 62:1256-1259.
6. Illa I, Serrano-Munuera C, Gallardo E, et al. Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype. Ann Neurol 2001; 49:130-134.
7. Nguyen K, Bassez G, Krahn M, et al. Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes. Arch Neurol 2007;64:1176-1182.
8. Klinge L, Dean AF, Kress W, et al. Late onset in dysferli-nopathy widens the clinical spectrum. Neuromuscul Dis-ord 2008;18:288-290.
9. Paradas C, González-Quereda L, De Luna N, et al. A new phenotype of dysferlinopathy with congenital onset. Neu-romuscul Disord 2009;19:21-26.
10. Illa I, De Luna N, Dominguez-Perles R, et al. Symptomatic dysferlin gene mutation carriers: characterization of two cases. Neurology 2007;68:1284-1289.
11. Argov Z, Sadeh M, Mazor K, et al. Muscular dystrophy due to dysferlin deficiency in Libyan Jews: clinical and genetic features. Brain 2000;123:1229-1237.
12. Nguyen K, Bassez G, Bernard R, et al. Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferli-nopathies. Hum Mutat 2005;26:165.
13. Takahashi T, Aoki M, Tateyama M, et al. Dysferlin mutations in Japanese Miyoshi myopathy: relationship to phe-notype. Neurology 2003;60:1799-1804.
14. Marden FA, Connolly AM, Siegel MJ, Rubin DA. Compositional analysis of muscle in boys with Duchenne muscular dystrophy using MR imaging. Skeletal Radiol 2005; 34:140-148.
15. Mercuri E, Bushby K, Ricci E, et al. Muscle MRI findings in patients with limb girdle muscular dystrophy with cal-pain 3 deficiency (LGMD2A) and early contractures Neu-romuscul Disord, 2005, 15, 164-171
16. pain 3 deficiency (LGMD2A) and early contractures. Neu-romuscul Disord 2005;15:164-171.
17. Mercuri E, Pichiecchio A, Allsop J, Messina S, Pane M, Muntoni F. Muscle MRI in inherited neuromuscular disorders: past, present, and future. J Magn Reson Imaging 2007;25:433-440.
18. Fischer D, Herasse M, Ferreiro A, et al. Muscle imaging in dominant core myopathies linked or unlinked to the ryan-odine receptor 1 gene. Neurology 2006;67:2217-2220.
19. Jungbluth H, Sewry CA, Counsell S, et al. Magnetic resonance imaging of muscle in nemaline myopathy. Neuro-muscul Disord 2004;14:779-784.
20. Cupler EJ, Bohlega S, Hessler R, McLean D, Stigsby B, Ahmad J. Miyoshi myopathy in Saudi Arabia: clinical, electrophysiological, histopathological and radiological features. Neuromuscul Disord 1998;8:321-326.
21. Flachenecker P, Kiefer R, Naumann M, Handwerker M, Reichmann H. Distal muscular dystrophy of Miyoshi type: report of two cases and review of the literature. J Neurol 1997;244:23-29.
22. Fischer D, Walter MC, Kesper K, et al. Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs. J Neurol 2005;252:538-547.
23. Meola G, Sansone V, Rotondo G, Jabbour A. Computerized tomography and magnetic resonance muscle imaging in Miyoshi's myopathy. Muscle Nerve 1996;19:1476-1480.
24. Anderson LV, Davison K. Multiplex Western blotting system for the analysis of muscular dystrophy proteins. Am J Pathol 1999;154:1017-1022.
25. Ho M, Gallardo E, McKenna-Yasek D, De Luna N, Illa I, Brown Jr RH. A novel, blood-based diagnostic assay for limb girdle muscular dystrophy 2B and Miyoshi myop-athy. Ann Neurol 2002;51:129-133.
26. Personius KE, Pandya S, King WM, Tawil R, McDermott MP. Facioscapulohumeral dystrophy natural history study: standardization of testing procedures and reliability of measurements: The FSH DY Group. Phys Ther 1994;74:253-263. (Pubitemid 24067063)
27. 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.
28. Guglieri M, Magri F, D'Angelo MG, et al. Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients. Hum Mutat 2008;29:258-266.
29. van der Kooi AJ, Frankhuizen WS, Barth PG, et al. Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the families. Neurology 2007;68:2125-2128.
30. Anderson LV, Harrison RM, Pogue R, et al. Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies). Neuromuscul Disord 2000; 10:553-559.
31. Huang Y, de Morree A, van Remoortere A, et al. Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle. Hum Mol Genet 2008;15:17:1855-1866.
32. Pradhan S. Diamond on quadriceps: a frequent sign in dysferlinopathy. Neurology 2008;70:322.
33. Fischer D, Kley RA, Strach K, et al. Distinct muscle imaging patterns in myofibrillar myopathies. Neurology 2008; 71:758-765.
34. Lamminen AE. Magnetic resonance imaging of primary skeletal muscle diseases: patterns of distribution and severity of involvement. Br J Radiol 1990;63:946-950.
35. Mercuri E, Lampe A, Allsop J, et al. Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myop-athy. Neuromuscul Disord 2005;15:303-310.
36. Berciano J, Gallardo E, Garcia A, Combarros O. Pes cavus pathogenesis in Charcot-Marie-Tooth disease type 1A. Brain 2006;129:E51.
37. Mahjneh I, Marconi G, Bushby K, Anderson LV, Tolvanen-Mahjneh H, Somer H. Dysferlinopathy (LGMD2B): a 23-year follow-up study of 10 patients homozygous for the same frameshifting dysferlin mutations. Neuromuscul Disord 2001;11:20-26.
38. Linssen WH, Notermans NC, Van der Graaf Y, et al. Miyoshi-type distal muscular dystrophy: clinical spectrum in 24 Dutch patients. Brain 1997;120:1989-1996.