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Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin

Reeves, Roger ; Faulkner, Georgine ; Wiltshire, Tim J ; Vainzof, Mariz ; Valle, Giorgio ; Moreira, Eloisa S ; Nilforoushan, Antje ; Passos-Bueno, M. R ; Suzuki, Oscar T ; Jenne, Dieter E ; Zatz, Mayana

Nature genetics, 2000-02, Vol.24 (2), p.163-166 [Periódico revisado por pares]

London: Nature Publishing Group

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Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin
Autor: Reeves, Roger ; Faulkner, Georgine ; Wiltshire, Tim J ; Vainzof, Mariz ; Valle, Giorgio ; Moreira, Eloisa S ; Nilforoushan, Antje ; Passos-Bueno, M. R ; Suzuki, Oscar T ; Jenne, Dieter E ; Zatz, Mayana
Assuntos: Amino Acid Sequence ; Base Sequence ; Biological and medical sciences ; calpain 3 ; calpain III ; chromosome 17 ; Chromosome Mapping ; Chromosomes, Human, Pair 17 ; Complications and side effects ; Connectin ; Diseases of striated muscles. Neuromuscular diseases ; dysferlin ; Exons ; Female ; Gene mutations ; Genes, Recessive ; Genetic aspects ; Genetic Markers ; Glycoproteins ; Humans ; Introns ; Limb girdle muscular dystrophy ; Male ; Medical sciences ; Microsatellite Repeats ; Molecular Sequence Data ; Muscle Proteins - chemistry ; Muscle Proteins - genetics ; Muscular Dystrophies - classification ; Muscular Dystrophies - genetics ; Muscular dystrophy ; Neurology ; Nuclear Family ; Pedigree ; Physiological aspects ; Promoter Regions, Genetic ; Risk factors ; sarcoglycan ; Sarcomeres - genetics ; Sarcomeres - metabolism ; Sequence Alignment ; telethonin
É parte de: Nature genetics, 2000-02, Vol.24 (2), p.163-166
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Descrição: Autosomal recessive limb-girdle muscular dystrophies (AR LGMDs) are a genetically heterogeneous group of disorders that affect mainly the proximal musculature. There are eight genetically distinct forms of AR LGMD, LGMD 2A-H (refs 2-10), and the genetic lesions underlying these forms, except for LGMD 2G and 2H, have been identified. LGMD 2A and LGMD 2B are caused by mutations in the genes encoding calpain 3 (ref. 11) and dysferlin, respectively, and are usually associated with a mild phenotype. Mutations in the genes encoding gamma-(ref. 14), alpha-(ref. 5), beta-(refs 6,7) and delta (ref. 15)-sarcoglycans are responsible for LGMD 2C to 2F, respectively. Sarcoglycans, together with sarcospan, dystroglycans, syntrophins and dystrobrevin, constitute the dystrophin-glycoprotein complex (DGC). Patients with LGMD 2C-F predominantly have a severe clinical course. The LGMD 2G locus maps to a 3-cM interval in 17q11-12 in two Brazilian families with a relatively mild form of AR LGMD (ref. 9). To positionally clone the LGMD 2G gene, we constructed a physical map of the 17q11-12 region and refined its localization to an interval of 1.2 Mb. The gene encoding telethonin, a sarcomeric protein, lies within this candidate region. We have found that mutations in the telethonin gene cause LGMD 2G, identifying a new molecular mechanism for AR LGMD.
Editor: London: Nature Publishing Group
Idioma: Inglês

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Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin

Reeves, Roger ; Faulkner, Georgine ; Wiltshire, Tim J ; Vainzof, Mariz ; Valle, Giorgio ; Moreira, Eloisa S ; Nilforoushan, Antje ; Passos-Bueno, M. R ; Suzuki, Oscar T ; Jenne, Dieter E ; Zatz, Mayana

London: Nature Publishing Group

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