Clinical, morphological and immunological evaluation of six patients with dysferlin deficiency

Acta Neuropathologica

Volumn 105, Issue 6, 2003, Pages 537-542

  Prelle, Alessandro ^a   Sciacco, M ^a   Tancredi, L ^a   Fagiolari, G ^a   Comi, G P ^a   Ciscato, P ^a   Serafini, M ^a   Fortunato, F ^a   Zecca, C ^a   Gallanti, A ^a   Chiveri, L ^a   Bresolin, N ^a   Scarlato, G ^a   Moggio, M ^a  

^a UNIVERSITY OF MILAN   (Italy)

Author keywords

Apoptosis; Dysferlin; Lim girdle dystrophy; Miyoshi myopathy; Muscle inflammation

Indexed keywords

CALPAIN; CAVEOLIN; CREATINE KINASE; DYSFERLIN; DYSTROPHIN; EMERIN; FAS ANTIGEN; MEROSIN; MUSCLE PROTEIN; SARCOGLYCAN; DYSF PROTEIN, HUMAN; MEMBRANE PROTEIN;

ADOLESCENT; ADULT; APOPTOSIS; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COMPLEX FORMATION; CONTROLLED STUDY; ELECTROMYOGRAM; FAMILY HISTORY; FEMALE; GENE MUTATION; GENETIC CODE; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; IMMUNOPATHOLOGY; ITALY; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; MIYOSHI MYOPATHY; MORPHOLOGY; MUSCLE BIOPSY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PROTEIN EXPRESSION; SKELETAL MUSCLE; WESTERN BLOTTING; CLASSIFICATION; COMPARATIVE STUDY; EVALUATION; GENETICS; METABOLISM; METHODOLOGY; MIDDLE AGED; MUSCULAR DYSTROPHY; PATHOLOGY;

ADOLESCENT; ADULT; ANTIGENS, CD95; BLOTTING, WESTERN; CHILD; DYSTROPHIN; EVALUATION STUDIES; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUSCLE PROTEINS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES;

EID: 0038142687     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00401-002-0654-1     Document Type: Article

References (23)

1. Anderson L, Davison K (1999) Multiplex western blotting system for the analysis of muscular dystrophy proteins. Am J Pathol 154:1017-1022
2. Anderson L, Davison K, Moss JA, Young C, Cullen MJ, Walsh J, Johnson MA, Bashir R, Britton S, Keers S, Argov Z, Mahjneh I, Fougerousse F, Beckmann JS, Bushby K (1999) Dysferlin is a plasma membrane protein and is expressed early in human development. Hum Mol Genet 8:855-861
3. Anderson L, Harrison R, Pogue R, Vafiadaki E, Pollit C, Davison K, Moss JA, Keers S, Pyle A, Shaw PJ, Mahjneh, Argov Z, Greenberg CR, Wrogemann K, Bertorini T, Goebel HH, Beckman JS, Bashir R, Bushby KM (2000) Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B Myoshi myopathy (primary dysferlinopathies). Neuromuscl Disord 10:553-559
4. Arahata K, Engel AG (1988) Monoclonal antibody analysis of mononuclear cells in myopathies. IV. Cell-mediated cytotoxicity and muscle fibre necrosis. Ann Neurol 23:168-173
5. Arahata K, Ishihara T, Fukunaga H, Orimo S, Lee JH, Goto K, Nonaka I (1995) Inflammatory response in facioscapulohumeral muscular dystrophy (FSHD): immunocytochemical and genetic analyses. Muscle Nerve 2:S56-S66
6. 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 (2000) Muscular dystrophy due to dysferlin deficiency in Libyan Jews. Brain 123:1229-1237
7. Baghdiguian S, Martin M, Richard I, Pons F, Astier C, Bourg N, Hay RT, Chemaly R, Halaby G, Loiselet J, Anderson LVB, Lopez de Munain A, Fardeau M, Mangeat P, Beckmann JS, Lefranc G (1999) Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IkBα/NFkB pathway in limb girdle muscular dystrophy type 2A. Nat Med 5:503-511
8. Bazzi P, Moggio M, Prelle A, Sciacco M, Messina S, Barbieri S, Tonin P, Tomelleri G, Battistel A, Adobbati L, Checcarelli N, Veschi G, Scarlato G (1999) Clinically ill patients: immunological evidence of inflammation in muscle biopsy. Clin Neuropathol 18:23-30
9. Cornelio F, Dworzak F, Morandi L, Fedrizzi E, Balestrini MR, Gondoni L (1982) Functional evaluation of Duchenne muscular dystrophy: proposal for a protocol. Ital J Neurol 3:323-330
10. Dubowitz V (1985). Muscle biopsy, a practical approach, 2nd edn. Baillière Tindall, London
11. Gallardo E, Rojas-Garcìa R, De Luna N, Pou A, Brown RH, Illa I (2001) Inflammation in dysferlin myopathy: immunohistochemical characterisation of 13 patients. Neurology 57:2136-2138
12. Illarioshkin SN, Ivanova-Smolenskaya IA, Tanaka H, Vereshchagin V, Markova ED, Poleshchuk VV, Lozhnikova SM, Sukhorukov VS, Limborska SA, Slominsky PA, Bulayeva KB, Tsuji S (1996) Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy. Brain 19:1895-1909
13. Inukai A, Kobayashi Y, Ito K, Doyu M, Takano A, Honda H, Sobue G (1997) Expression of Fas antigen is not associated with apoptosis in human myopathies. Muscle Nerve 20:702-709
14. Liu J, Aoki M, Illa I, Wu C, Fardeau M, Angelini C, Serrano C, Andoni Urtizberea J, Hentati F, Ben Hamida M, Bohlega S, Culper EJ, Amato AA, Bossie K, Oeltjen J, Bejaoui K, McKenna-Yasek D, Hosler BA, Schurr E, Arahata K, Jong PJ de, Brown RH Jr (1988) Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet 20:31-36
15. Matsuda C, Hayashi YK, Ogawa M, Aoki M, Murayama K, Nishino I, Nonaka I, Arahata K, Brown RH (2001) The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle. Hum Mol Genet 10:1761-1766
16. Minetti C, Sotgia F, Bruno G, Scartezzini P, Broda P, Bado M, Masetti E, Mazzocco M, Egeo A, Donati MA, Volonte D, Galbiati F, Cordone G, Bricarelli FD Lisanyi MP, Zara F (1998) Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nat Genet 4:365-368
17. Nagano A, Koga R, Ogawa M, Kurano Y, Kawada J, Okada R, Hayashi YK, Tsukahara T, Arahata K (1996) Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy. Nat Genet 12:254-259
18. Nicholson LVB, Davinson K, Falkous G, Harwood C, O'Donnel EO, Slater CR, Harris JB (1989) Dystrophin in skeletal muscle. Immunoreactivity in patients with Xp21 muscular dystrophy. J Neurol Sci 94:137-146
19. Piccolo F, Moore SA, Ford GC, Campbell KP (2000) Intracellular accumulation and reduced sarcolemmal expression of dysferlin in Limb-girdle muscular dystrophies. Ann Neurol 48:902-912
20. Prelle A, Comi GP, Rigoletto C, Turconi A, Felisari G, Ciscato P, Fortunato F, Messina S, Bresolin N, Mora M, Moggio M, Scarlato G (1997) An atypical case of partial merosin deficiency congenital muscular dystrophy. J Neurol 244:391-396
21. Sciacco M, Fagiolari G, Lamperti C, Messina S, Bazzi P, Napoli L, Chiveri L, Prelle A, Comi GP, Bresolin N, Scarlato G, Moggio M (2001) Lack of apoptosis in mitochondrial encephalomyopathies. Neurology 56:1070-1074
22. Walton JN (1974) Clinical examination of volountary muscle, 3rd edn. Churchill Livingstone, Edinburgh, pp 517-560
23. Weiler T, Bashir R, Anderson LVB, Davison K, Moss JA, Britton S, Nylen E, Keers S, Vafiadaki E, Greenberg CR, Bushby K, Wrogemann K (1999) Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s). Hum Mol Gen 5:871-877