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distal myopathies/phosphatase
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10 resultados
Reducing bodies in distal myopathy with rimmed vacuole formation.
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A 42-year-old woman with distal myopathy with rimmed vacuoles had intracytoplasmic inclusion bodies similar to those described in reducing body myopathy. Since these inclusions were found in fibers with high acid phosphatase activity and occasional rimmed vacuoles, their formation appeared to
Histochemical and histopathological changes in skeletal muscle in late-onset hereditary distal myopathy (Welander).
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Histochemical and histopathological staining methods were applied to muscle biopsy material from 13 patients with distal myopathy of late onset. Six cases showed slight to moderate histopathological changes and the normal distinction between Type I and Type II muscle fibres, based on their staining
Distal myopathy: histochemical and ultrastructural studies.
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In three familial cases and one sporadic case of late-onset distal myopathy, muscle wasting started in the distal portions of the lower extremities. The most striking change seen by light microscopy was the appearance of rimmed vacuoles. These were presumed to be autophagic, because they were found
[Distal myopathies: clinical, laboratory, electromyographic, histologic-histochemical analysis of 8 cases].
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Distal myopathies are uncommon diseases presenting difficulties in the classification by the lack of sufficient knowledge on pathogenesis. We describe eight cases of distal myopathies (five male and three female patients) whose symptoms started at the age of 10 in five and 20 in three. Symptoms
Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation.
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Three cases from 2 families had muscle weakness with predilection for distal extremities, predominantly affecting the tibialis anterior muscles, and onset in early adulthood. The disorder seemed to be inherited through an autosomal recessive trait. The EMG demonstrated a myopathic pattern and CPK
Lobulated fibers in neuromuscular diseases.
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Lobulated fibers have been observed in biopsies of 13 patients with various neuromuscular disorders including limb-girdle muscular dystrophy (3), distal myopathy (2), scapuloperoneal muscular dystrophy (2), congenital myopathy, Kugelberg-Welander syndrome, hypothyroidism, steroid myopathy,
High AMP deaminase activity in rimmed vacuoles of skeletal muscle.
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Localized high AMP deaminase activity was found in the rimmed vacuoles of skeletal muscles in acid maltase deficiency, distal myopathy with rimmed vacuole formation, and experimental chloroquine myopathy on histochemical staining. Acid phosphatase activity was also increased in and around these
Immunohistochemical localization of AMP deaminase in rimmed vacuoles in human skeletal muscle.
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High AMP deaminase reactivity was detected in the rimmed vacuoles in skeletal muscles in adult onset acid maltase deficiency and distal myopathy with rimmed vacuole formation histochemically as well as immunohistochemically. Acid phosphatase activity was positive but myosin ATPase activity was
[A 21-year-old man with distal dominant progressive muscle atrophy].
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We report a 21-year-old man with distal dominant progressive muscle atrophy. The patient was apparently well until 17 years of age when he noted a decrease in exercise tolerance. One year later, he noted difficulty in arising his heels when the walked. He was admitted to our service for the work up
Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia.
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Inclusion body myopathy with Paget disease of the bone (PDB) and/or frontotemporal dementia (IBMPFD, OMIM 167320), is a progressive autosomal dominant disorder caused by mutations in the Valousin-containing protein (VCP, p97 or CDC48) gene. IBMPFD can be difficult to diagnose. We assembled data on a
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