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Titolo:
Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation
Autore:
McNally, EM; Ly, CT; Rosenmann, H; Rosenbaum, SM; Jiang, W; Anderson, LVB; Soffer, D; Argov, Z;
Indirizzi:
Univ Chicago, Dept Med, Dept Human Genet, Chicago, IL 60637 USA Univ Chicago Chicago IL USA 60637 Dept Human Genet, Chicago, IL 60637 USA Hadassah Univ Hosp, Dept Neurol, IL-91120 Jerusalem, Israel Hadassah Univ Hosp Jerusalem Israel IL-91120 IL-91120 Jerusalem, Israel Hadassah Univ Hosp, Unit Dev Mol Biol & Genet Engn, IL-91120 Jerusalem, Israel Hadassah Univ Hosp Jerusalem Israel IL-91120 IL-91120 Jerusalem, Israel Univ Newcastle Upon Tyne, Sch Med, Dept Neurobiol, Newcastle Upon Tyne NE17RU, Tyne & Wear, England Univ Newcastle Upon Tyne Newcastle Upon Tyne Tyne & Wear England NE1 7RU Hebrew Univ Jerusalem, Hadassah Med Sch, Dept Pathol, IL-91010 Jerusalem, Israel Hebrew Univ Jerusalem Jerusalem Israel IL-91010 -91010 Jerusalem, Israel
Titolo Testata:
AMERICAN JOURNAL OF MEDICAL GENETICS
fascicolo: 4, volume: 91, anno: 2000,
pagine: 305 - 312
SICI:
0148-7299(20000410)91:4<305:SMIDPL>2.0.ZU;2-E
Fonte:
ISI
Lingua:
ENG
Soggetto:
CHROMOSOME 2P; GENE; LINKAGE; MICE;
Keywords:
limb-girdle muscular dystrophy; dysferlin; inflammatory myopathy;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
25
Recensione:
Indirizzi per estratti:
Indirizzo: McNally, EM Univ Chicago, Dept Med, Dept Human Genet, 5841 S Maryland,MC 6088, Chicago, IL 60637 USA Univ Chicago 5841 S Maryland,MC 6088 Chicago IL USA 60637 USA
Citazione:
E.M. McNally et al., "Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation", AM J MED G, 91(4), 2000, pp. 305-312

Abstract

Mutations in dysferlin were recently described in patients with Miyoshi myopathy, a disorder that preferentially affects the distal musculature, and in patients with Limb-Girdle Muscular Dystrophy 2B, a disorder that affectsthe proximal musculature, Despite the phenotypic differences, the types ofmutations associated with Miyoshi myopathy and Limb-Girdle Muscular Dystrophy 2B do not differ significantly, Thus, the etiology of the phenotypic variability associated with dysferlin mutations remains unknown. Using genetic linkage and mutation analysis, we identified a large inbred pedigree of Yemenite Jewish descent with limb-girdle muscular dystrophy, The phenotype in these patients included slowly progressive, proximal, and distal muscularweakness in the lower limbs with markedly elevated serum creatine kinase (CK) levels. These patients had normal development and muscle strength and function in early life. Muscle biopsies from 4 affected patients showed a typical dystrophic pattern but interestingly, in 2, an inflammatory process was seen. The inflammatory infiltrates included primarily CD3 positive lymphocytes, Associated with this phenotype, we identified a previously undescribed frameshift mutation at nucleotide 5711 of dysferlin, This mutation produced an absence of normal dysferlin mRNA synthesis by affecting an acceptorsite and cryptic splicing. Thus, splice site mutations that disrupt dysferlin may produce a phenotype associated with inflammation. (C) 2000 Wiley-Liss, Inc.

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Documento generato il 23/01/20 alle ore 12:24:33