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Telethonin protein expression in neuromuscular disorders

Vainzof, Mariz; Moreira, Eloisa de Sá; Suzuki, Oscar Takeo; Faulkner, Georgine; Valle, Georgio; Beggs, Alan H.; Carpen, Olli; Ribeiro, Alberto F.; Zanoteli, Edmar [UNIFESP]; Gurgel-Gianneti, Juliana; Tsanaclis, Ana Maria Crous; Silva, Helga Cristina Almeida da [UNIFESP]; Passos-Bueno, Maria Rita; Zatz, Mayana (Elsevier B.V., 2002-10-09)

Telethonin is a 19-kDa sarcomeric protein, localized to the Z-disc of skeletal and cardiac muscles. Mutations in the telethonin gene cause limb-girdle muscular dystrophy type 2G (LGMD2G). We investigated the sarcomeric ...

Hand Function in Muscular Dystrophies: Relationship Between Performance of Upper Limb and Jebsen-Taylor Tests

Artilheiro, Mariana Cunha; Sá, Cristina dos Santos Cardoso de [UNIFESP]; Favero, Francis Meire [UNIFESP]; Wutzki, Hanna C.; Dutra de Resende, Maria Bernadete; Caromano, Fatima Aparecida; Voos, Mariana Callil (Sage Publications Inc, 2017)

The aim of this study was to investigate the relationship between Performance of Upper Limb (PUL) and Jebsen-Taylor Test (JTT) to assess and monitor upper limb function progression in patients with muscular dystrophy. ...

Frequency of dystrophic muscle abnormalities in chronic progressive external ophthalmoplegia: analysis of 86 patients

Kiyomoto, Beatriz Hitomi [UNIFESP]; Tengan, Celia Harumi [UNIFESP]; Costa, C. K. [UNIFESP]; Oliveira, A. S. [UNIFESP]; Schmidt, B.; Gabbai, Alberto Alain [UNIFESP] (B M J Publishing Group, 2006-04-01)

Background: There are few reports describing the coexistence of dystrophic features with those typical of mitochondrial myopathies in muscle biopsy. A recent study suggested that dystrophic features are frequent in patients ...

Distrofia muscular congênita estudo clinico de 17 pacientes

Oliveira, Acary Souza Bulle [UNIFESP]; Gabbai, Alberto Alain [UNIFESP]; Kiyomoto, Beatriz Hitomi [UNIFESP]; Ferreira Neto, A. [UNIFESP]; Schmidt, Beny [UNIFESP]; Lima, J. G. C. [UNIFESP] (Academia Brasileira de Neurologia - ABNEURO, 1991-09-01)

We concur with the idea that congenital muscular dystrophy (CMD) is a distinct clinical entity, and report 17 patients (2 negroes and 15 whites; 12M and 5 F; median age 6 years, range 1 to 24 years) with genetic, clinical, ...