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      Miopatía distal de tipo Miyoshi Translated title: Miyoshi Type´s distal myopathy

      case-report

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          Abstract

          RESUMEN Introducción: La distrofia muscular a tipo Miyoshi es una enfermedad genética, neuromuscular que afecta a las cinturas escapular y pélvica, causando alto grado de discapacidad, su diagnóstico se realiza a través de exámenes enzimáticos y biopsia muscular. Caso clínico: Paciente de 48 años de edad con una evolución de su diagnóstico de hace 16 años, con gran limitación funcional para la marcha desde hace un año y medio, debilidad muscular y atrofia de la musculatura posterior de ambos miembros inferiores. Se le realizó tratamiento rehabilitador integral con objetivos específicos. Conclusiones: Luego de 30 sesiones de tratamiento, se cumplieron los objetivos trazados con evolución satisfactoria, siendo el tratamiento rehabilitador integral un pilar importante en la mejoría clínica del paciente.

          Translated abstract

          ABSTRACT Introduction: Muscular dystrophy of Miyoshi type is a genetic and neuromuscular disease that affects the pelvic and shoulder girdle and causes high degree of disability. Its diagnosis is through enzyme testing and muscle biopsy. Clinical case: 48- years- male patient with evolution of his diagnosis made 16 years ago. The patient had great functional limitation for walking from a year and a half before, muscle weakness and atrophy of the posterior muscles of both lower limbs. It was applied comprehensive rehabilitation treatment with specific objectives. Conclusions: After 30 treatment sessions, the objectives were achieved with a satisfactory evolution. The comprehensive rehabilitative treatment proved to be an important pillar in the patient´s clinical improvement.

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          Structural basis for activation of the titin kinase domain during myofibrillogenesis.

          The giant muscle protein titin (connectin) is essential in the temporal and spatial control of the assembly of the highly ordered sarcomeres (contractile units) of striated muscle. Here we present the crystal structure of titin's only catalytic domain, an autoregulated serine kinase (titin kinase). The structure shows how the active site is inhibited by a tyrosine of the kinase domain. We describe a dual mechanism of activation of titin kinase that consists of phosphorylation of this tyrosine and binding of calcium/calmodulin to the regulatory tail. The serine kinase domain of titin is the first known non-arginine-aspartate kinase to be activated by phosphorylation. The phosphorylated tyrosine is not located in the activation segment, as in other kinases, but in the P + 1 loop, indicating that this tyrosine is a binding partner of the titin kinase substrate. Titin kinase phosphorylates the muscle protein telethonin in early differentiating myocytes, indicating that this kinase may act in myofibrillogenesis.
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            Diagnostic protein expression in human muscle biopsies.

            Using immunohistochemistry in diagnosing neuromuscular diseases is meant to enhance the diagnostic yield in two ways. The first application aims at visualizing molecules which are developmentally, neurally, and/or immunologically regulated and not expressed by normal muscle. They are upregulated in pathological conditions and may help assign a given muscular biopsy to one of the main diagnostic entities (muscular dystrophies, inflammatory myopathy, neurogenic atrophy). In the past, muscle-specific molecules with a defined expression pattern during fetal myogenesis served as antigens, with the rationale that the developmental program was switched on in new fibers. Recently, myofibers in diseased muscle are thought of as targets of stimuli which are released by macrophages in muscular dystrophy, by lymphocytes in inflammatory myopathies, or by a lesioned peripheral nerve in neurogenic atrophies. This has somewhat blurred the borders between the diagnostic groups, for certain molecules, e.g. cytokines, may be upregulated after experimental necrotization, denervation, and also in inflammatory myopathies. In the second part of this review we summarise the experiences of a Centre in the North of England that specialises in the diagnosis and clinical support of patients with muscular dystrophy. Emphasis is placed on the use of protein expression to guide mutation analysis, particularly in the limb-girdle muscular dystrophies (a group of diseases that are very difficult to differentiate on clinical grounds alone). We confirm that genetic analysis is essential to corroborate the results of protein analysis in certain conditions (particularly in calpainopathy). However, we conclude that analysing biopsies for abnormal protein expression is very useful in aiding the decision between alternative diagnoses.
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              Actualización en distrofias musculares

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                Author and article information

                Journal
                mgi
                Revista Cubana de Medicina General Integral
                Rev Cubana Med Gen Integr
                ECIMED (Ciudad de La Habana, , Cuba )
                0864-2125
                1561-3038
                September 2019
                : 35
                : 3
                : e1281
                Affiliations
                [3] Guayaquil orgnameHospital Duran Ecuador
                [2] Guantánamo orgnamePoliclínico Emilio Daudinot Cuba
                [1] Guantánamo orgnamePoliclínico Asdrubal López Cuba
                Article
                S0864-21252019000300010 S0864-2125(19)03500300010
                e8011609-b997-4191-beb1-bfc6847a8e16

                This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

                History
                : 17 September 2018
                : 24 April 2018
                Page count
                Figures: 0, Tables: 0, Equations: 0, References: 10, Pages: 0
                Product

                SciELO Cuba

                Categories
                PRESENTACION DE CASOS

                discapacidad,disability,rehabilitation,Muscular Dystrophy,Distrofia muscular,rehabilitación

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