Symptomatic dysferlin gene mutation carriers: Characterization of two cases

Neurology

Volumn 68, Issue 16, 2007, Pages 1284-1289

  Illa, I ^a,b   De Luna, N ^a   Dominguez Perles R ^a   Rojas Garcia R ^a   Paradas, C ^c   Palmer, J ^b   Marquez C ^c   Gallano, P ^b   Gallardo, E ^a  

^a UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

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

^c HOSPITAL UNIVERSITARIO DE VALME   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

CALPAIN 3; CAVEOLIN 3; CREATINE KINASE; DNA; DYSFERLIN; MESSENGER RNA;

ADULT; ALLELE; ARTICLE; CASE REPORT; CREATINE KINASE BLOOD LEVEL; DISEASE CARRIER; GENE MUTATION; GENOME; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; IMMUNOFLUORESCENCE; MALE; MONOCYTE; MUSCLE BIOPSY; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY; NUCLEOTIDE SEQUENCE; PERIPHERAL BLOOD MONONUCLEAR CELL; PRIORITY JOURNAL; PROTEIN EXPRESSION; RELATIVE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SARCOLEMMA; SKELETAL MUSCLE; SYMPTOMATOLOGY; WESTERN BLOTTING;

EID: 34247226211     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000256768.79353.60     Document Type: Article

References (30)

1. Bashir R, Strachan T, Keers S, et al. A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p. Hum Mol Genet 1994;3:455-457.
2. 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.
3. 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.
4. 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.
5. Bushby KM. Dysferlin and muscular dystrophy. Acta Neurol Belg 2000;100:142-145.
6. Bushby KM. Making sense of the limb-girdle muscular dystrophies. Brain 1999;122:1403-1420.
7. Vainzof M, Anderson LV, McNally EM, et al. Dysferlin protein analysis in limb-girdle muscular dystrophies. J Mol Neurosci 2001;17:71-80.
8. Aoki M, Liu J, Richard I, et al. Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy. Neurology 2001;57:271-278.
9. 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.
10. Anderson LV, Davison K, Moss JA, et al. Dysferlin is a plasma membrane protein and is expressed early in human development. Hum Mol Genet 1999;8:855-861.
11. Piccolo F, Moore SA, Ford GC, Campbell KP. Intracellular accumulation and reduced sarcolemmal expression of dysferlin in limb-girdle muscular dystrophies. Ann Neurol 2000;48:902-912.
12. Saito A, Higuchi I, Nakagawa M, et al. Miyoshi myopathy patients with novel 5′ splicing donor site mutations showed different dysferlin immunostaining at the sarcolemma. Acta Neuropathol (Berl) 2002;104:615-620.
13. Nguyen K, Bassez G, Bernard R, et al. Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies. Hum Mutat 2005;26:165-.
14. Matsuda C, Hayashi YK, Ogawa M, et al. The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle. Hum Mol Genet 2001;10:1761-1766.
15. Walter MC, Braun C, Vorgerd M, et al. Variable reduction of caveolin-3 in patients with LGMD2B/MM. J Neurol 2003;250:1431-1438.
16. 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.
17. Chrobakova T, Hermanova M, Kroupova I, et al. Mutations in Czech LGMD2A patients revealed by analysis of calpain3 mRNA and their phenotypic outcome. Neuromuscul Disord 2004;14:659-665.
18. Hermanova M, Zapletalova E, Sedlackova J, et al. Analysis of histopathologic and molecular pathologic findings in Czech LGMD2A patients. Muscle Nerve 2006;33:424-432.
19. Illa I, Gallardo E, Gimeno R, Serrano C, Ferrer I, Juarez C. Signal transducer and activator of transcription 1 in human muscle: implications in inflammatory myopathies. Am J Pathol 1997;151:81-88.
20. Anderson LV, Davison K. Multiplex Western blotting system for the analysis of muscular dystrophy proteins. Am J Pathol 1999;154:1017-1022.
21. Tawil R, Forrester J, Griggs RC, et al. Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy. The FSH-DY Group. Ann Neurol 1996;39:744-748.
22. De Luna N, Freixas A, Gallano P, et al. Dysferlin expression in monocytes: a source of mRNA for mutation analysis. Neuromuscul Disord 2006.
23. Gallardo E, Rojas-Garcia R, de Luna N, Pou A, Brown RH Jr, Illa I. Inflammation in dysferlin myopathy: immunohistochemical characterization of 13 patients. Neurology 2001;57:2136-2138.
24. Hoogerwaard EM, Bakker E, Ippel PF, et al. Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in The Netherlands: a cohort study. Lancet 1999;353:2116-2119.
25. Ben Hamida M, Fardeau M, Attia N. Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia. Muscle Nerve 1983;6:469-480.
26. Fischer D, Aurino S, Nigro V, Schroder R. On symptomatic heterozygous alpha-sarcoglycan gene mutation carriers. Ann Neurol 2003;54:674-678.
27. 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.
28. 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.
29. Cagliani R, Fortunato F, Giorda R, et al. 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.
30. Holbrook JA, Neu-Yilik G, Hentze MW, Kulozik AE. Nonsensemediated decay approaches the clinic. Nat Genet 2004;36:801-808.