Phenotypic variation in dysferlinopathy

Journal of Neurological Sciences

Volumn 26, Issue 1, 2009, Pages 106-111

  Celik, Munevver ^a   Ertasoglu, Hulya ^b  

^a SISLI ETFAL TRAINING AND RESEARCH HOSPITAL   (Turkey)

^b Erzurum Numune Hastanesi   (Turkey)

Author keywords

Distal anterior compartment myopathy; Distal myopathy; Dysferlin; Dysferlinopathy; Limb girdle muscular dystrophy

Indexed keywords

CREATINE KINASE; DYSFERLIN;

ADULT; ARTICLE; CASE REPORT; CLIMBING; CREATINE KINASE BLOOD LEVEL; DYSFERLINOPATHY; ELECTROMYOGRAPHY; FEMALE; FOOT DISEASE; FOOT DORSIFLEXION; GAIT DISORDER; HUMAN; LEG MUSCLE; LEG PAIN; LIMB WEAKNESS; LORDOSIS; MALE; MOTOR DYSFUNCTION; MOTOR UNIT POTENTIAL; MUSCLE BIOPSY; MUSCLE DENERVATION; MUSCLE STRENGTH; MUSCULAR DYSTROPHY; MYOPATHY; ONSET AGE; PHENOTYPE; POLYMYOSITIS; SYMPTOMATOLOGY; WALKING DIFFICULTY;

EID: 67649986102     PISSN: 13001817     EISSN: 13021664     Source Type: Journal    
DOI: None     Document Type: Article

References (20)

1. Aoki M, Liu J, Richard I, Bashir R, Britton S, Keers SM, Oeltjen S, Brown HEV, Marchand S, Bourg N, Beley C, McKenna-Yasek D, Arahata K, Bohlega S, Cupler E, Illa I, Majneh I, Barohn RJ, Urtizberea JA, Fardeau M, Amato A, Angelini C, Bushby K, Beckmann JS, Brown RH. Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy. Neurology 2001;57:271-278
2. Argov Z, Sadeh M, Mazor K, Soffer D, Kahana E, Eisenberg I, Mitrani-Rosenbaum S, Richard I, Beckmann J, Keers S, Bashir R, Bushby K, Rosenmann H. Muscular dystrophy due to dysferlin deficiency in Libyan Jews. Clinical and genetic features. Brain 2000;123:1229-1237.
3. Brummer D, Walter MC, Palmbach M, Knirsch U, Karitzky J, Tomczak R, Braun C, Grundhoff N, Bornemann A, Muller CR, Lochmuller H, Schreiber H. Long-term MRI and clinical follow-up of symptomatic and presymptomatic carriers of dysferlin gene mutations. Acta Myol 2005;24:6-16.
4. Cagliani R, Fortunato F, Giorda R, Rodolico C, Bonaglia MC, Sironi M, D'Angelo MG, Prelle A, Locatelli F, Toscano A, Bresolin N, Comi GP. Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population. Neuromuscul Disord 2003;13:788-795.
5. Cenacchi G, Fanin M, De Giorgi LB, Angelini C. Ultrastructural changes in dysferlinopathy support defective membrane repair mechanism. J Clin Pathol 2005;58:190-195.
6. Cheema Z, Saperstein D, Jackson C, Newman D. Neuromuscular Highlights - AAN 2005 J Clin Neuromusc Dis 2006;7:206-209.
7. Fanin M, Pegoraro E, Matsuda-Asada C, Brown RH, Angelini C. Calpain-3 and dysferlin protein screening in patients with limb-girdle dystrophy and myopathy. Neurology 2001;56:660-665.
8. Ho M, Gallardo E, McKenna-Yasek D, De Luna N, Illa I, Brown RH. A Novel, Blood-Based Diagnostic Assay for Limb Girdle Muscular Dystrophy 2B and Miyoshi Myopathy. Ann Neurol 2002;51:129-133.
9. Illa I, Serrano-Munuera C, Gallardo E, Lasa A, Rojas-Garcia R, Palmer J, Gallano P, Baiget M, Matsuda C, Brown RH. Distal Anterior Compartment Myopathy: A Dysferlin Mutation Causing a New Muscular Dystrophy Phenotype. Ann Neurol 2001;49:130-134.
10. Katz JS, Rando TA, Barohn RJ, Saperstein DS, Jackson CE, Wicklund M, Amato AA. Late-onset distal muscular dystrophy affecting the posterior calves. Muscle Nerve 2003;28:443-448.
11. Kawabe K, Goto K, Nishino I, Angelini C, Hayashi YK. Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy. Eur J Neurol. 2004; 11:657-661.
12. Kirschner J, Bönnemann CG. The Congenital and Limb-Girdle Muscular Dystrophies. Arch Neurol.2004;61:189-199.
13. Kurihara T. Different Phenotypes in Dysferlinopathy. Intern Med 2002;41:505-506.
14. 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.
15. Mastaglia FL, Lamont PJ, Laing NG. Distal myopathies. Curr Opin Neurol;2005:18:504-510.
16. Selva-O'Callaghan A, Labrador-Horrillo M, Gallardo E, Herruzo A, Grau-Junyent JM, Vilardell-Tarres M. Muscle inflammation, autoimmune Addison's disease and sarcoidosis in a patient with dysferlin deficiency. Neuromuscul Disord 2006;16:208-209.
17. Sinnreich M, Therrien C, Karpati G. Lariat branch point mutation in the dysferlin gene with mild limb-girdle muscular dystrophy. Neurology 2006;66:1114-1116.
18. Takahashi T, Aoki M, Tateyama M, Kondo E, Mizuno T, Onodera Y, Takano R, Kawai H, Kamakura K, Mochizuki H, Shizuka-Ikeda M, Nakagawa M, Yoshida Y, Akanuma J, Hoshino K, Saito H, Nishizawa M, Kato S, Saito K, Miyachi T, Yamashita H, Kawai M, Matsumura T, Kuzuhara S, Ibi T, Sahashi K, Nakai H, Kohnosu T, Nonaka I, Arahata K, Brown RH, Saito H, Itoyama Y. Dysferlin mutations in Japanese Miyoshi myopathy. Neurology 2003;60:1799-1804.
19. Ueyama H, Kumamoto T, Horinouchi H, Fujimoto S, Aono H, Tsuda T. Clinical Heterogeneity in Dysferlinopathy. Internal Medicine 2002;41:532-536.
20. Vilchez JJ, Gallano P, Gallardo E, Lasa A, Rojas-Garcia R, Freixas A, De Luna N, Calafell F, Sevilla T, Mayordomo F, Baiget M, Illa I. Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population. Arch Neurol 2005;62:1256-1259.