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Muscle magnetic resonance imaging and histopathology in ACTA1-related congenital nemaline myopathy
(John Wiley and Sons Inc., 2014)
© 2014 Wiley Periodicals, Inc.Introduction: Muscle biopsy is usually diagnostic in nemaline myopathy (NM), but some patients may show nonspecific findings, leading to pitfalls in diagnosis. Muscle MRI is a helpful complementary ...
Nebulin expression in patients with nemaline myopathy
(Elsevier B.V., 2001-03-01)
Nemaline myopathy is a structural congenital myopathy which may show both autosomal dominant and autosomal recessive inheritance patterns. Mutations in three different genes have been identified as the cause of nemaline ...
Further insights in nemaline myopathy (NM) with hyaline masses
(Elsevier, 2017)
Consensus Statement on Standard of Care for Congenital Myopathies
(SAGE PUBLICATIONS INCTHOUSAND OAKS, 2012)
Recent progress in scientific research has facilitated accurate genetic and neuropathological diagnosis of congenital myopathies. However, given their relatively low incidence, congenital myopathies remain unfamiliar to ...
Miopatia Nemalínica : caracterização da função pulmonar, motora e escores de qualidade de vida
(Universidade Federal de Minas GeraisBrasilMEDICINA - FACULDADE DE MEDICINAPrograma de Pós-Graduação em Ciências da Saúde - Saúde da Criança e do AdolescenteUFMG, 2020-05-29)
Objective: to evaluate the existing literature on clinical and functional parameters and instruments for assessing respiratory, motor function and patient quality of life (QOL) with Nemaline Myopathy (NM). Methods: ...
Telethonin protein expression in neuromuscular disorders
(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 ...