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Source: Acta Myologica
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Total 606 results found since Jan 2013.
Autosomal dominant Ullrich congenital muscular dystrophy due to a < em > de novo < /em > mutation in < em > COL6A3 < /em > gene. A case report
We describe a further patient with UCMD classical presentation who showed, at the NGS analysis, the de novo variant c.6210+1G > A in the intron 16 of the gene COL6A3, known in the literature as pathogenic (VCV0000949S6.5).PMID:35832501 | PMC:PMC9237747 | DOI:10.36185/2532-1900-073
Source: Acta Myologica - July 14, 2022 Category: Neurology Authors: Esther Picillo Annalaura Torella Luigia Passamano Vincenzo Nigro Luisa Politano Source Type: research
A novel compound heterozygous mutation in PYGM gene associated with McArdle's disease
We describe a case of a 17-year-old male complaining of cramps and myalgia following brief and intense exercise. The patient reported marked improvement in muscle fatigability few minutes after starting aerobic exercise. When he was a child, he had experienced few episodes of vomiting, nausea, and black colored urine following physical activity. Laboratory testings revealed high creatine kinase serum levels. Genetic testings for metabolic myopathies demonstrated a compound heterozygous for two PYGM mutations (p.R570Q and p.K754Nfs*49) allowing the diagnosis of McArdle's disease. To date, 183 mutations in the PYGM gene are ...
Source: Acta Myologica - April 25, 2022 Category: Neurology Authors: Salvatore Iacono Antonino Lupica Vincenzo Di Stefano Eugenia Borgione Filippo Brighina Source Type: research
Peculiar histological and ultrastructural skeletal muscle alterations in a patient with CMV infection and autoimmune myositis: case evaluation and brief literature review
We report the case of a young woman with CMV infection, high level of creatine kinase and myopathy. Electromyography showed a myopathic pattern. Muscle biopsy showed a marked increase of NADH enzymatic activity in the central area of almost all type I fibres, few degenerative and necrotic fibres and scattered mononuclear cell infiltrates. Ultrastructural analysis showed a marked disarrangement of sarcomeric structure and large inclusions of thin filaments in some fibres, while immunohistochemistry evidenced alteration in desmin, actin and αB-crystallin protein signals. PCR for CMV detection on muscle sections was negative...
Source: Acta Myologica - April 25, 2022 Category: Neurology Authors: Michela Ripolone Laura Napoli Vittorio Mantero Monica Sciacco Simona Zanotti Source Type: research
A novel compound heterozygous mutation in PYGM gene associated with McArdle's disease
We describe a case of a 17-year-old male complaining of cramps and myalgia following brief and intense exercise. The patient reported marked improvement in muscle fatigability few minutes after starting aerobic exercise. When he was a child, he had experienced few episodes of vomiting, nausea, and black colored urine following physical activity. Laboratory testings revealed high creatine kinase serum levels. Genetic testings for metabolic myopathies demonstrated a compound heterozygous for two PYGM mutations (p.R570Q and p.K754Nfs*49) allowing the diagnosis of McArdle's disease. To date, 183 mutations in the PYGM gene are ...
Source: Acta Myologica - April 25, 2022 Category: Neurology Authors: Salvatore Iacono Antonino Lupica Vincenzo Di Stefano Eugenia Borgione Filippo Brighina Source Type: research
Peculiar histological and ultrastructural skeletal muscle alterations in a patient with CMV infection and autoimmune myositis: case evaluation and brief literature review
We report the case of a young woman with CMV infection, high level of creatine kinase and myopathy. Electromyography showed a myopathic pattern. Muscle biopsy showed a marked increase of NADH enzymatic activity in the central area of almost all type I fibres, few degenerative and necrotic fibres and scattered mononuclear cell infiltrates. Ultrastructural analysis showed a marked disarrangement of sarcomeric structure and large inclusions of thin filaments in some fibres, while immunohistochemistry evidenced alteration in desmin, actin and αB-crystallin protein signals. PCR for CMV detection on muscle sections was negative...
Source: Acta Myologica - April 25, 2022 Category: Neurology Authors: Michela Ripolone Laura Napoli Vittorio Mantero Monica Sciacco Simona Zanotti Source Type: research
