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Progression in nemaline myopathy
Acta Neuropathologica, 1989Four of seven patients with nemaline myopathy had severe, rapidly progressing symptoms. These four showed an increase in acid phosphatase activity in muscle fibers demonstrated by histochemistry and cathepsin B&L activity by biochemical measurement. On electron microscopy, nemaline bodies, occasionally disorganized myofibrils and autophagic vacuoles ...
I, Nonaka +5 more
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Hereditary Occurrence of Nemaline Myopathy
Archives of Neurology, 1965SINCE the original descriptions of nemaline myopathy in 1963 by Shy et al1,2in a four-yearold girl with pelvic and pectoral girdle weakness, other cases from different families have been described.3-5In none of these cases have muscle biopsies proved involvement of other members of the family with an exact disease process.
A J, Spiro, C, Kennedy
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Journal of Neuro-Ophthalmology, 1997
Ophthalmoparesis and ptosis are extremely rare in nemaline myopathy. A 45-year-old man with a long history of bilateral ptosis and a 1-year history of diplopia is reported. Leg and arm weakness and wasting had been present since childhood, with a very slow deterioration over time.
R A, Wright +3 more
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Ophthalmoparesis and ptosis are extremely rare in nemaline myopathy. A 45-year-old man with a long history of bilateral ptosis and a 1-year history of diplopia is reported. Leg and arm weakness and wasting had been present since childhood, with a very slow deterioration over time.
R A, Wright +3 more
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Archives of Neurology, 1986
Fluorescent protease histochemical analysis of muscle biopsy specimens from two patients with nemaline myopathy revealed the apparent absence of one proteolytic enzyme, dipeptidyl peptidase. Although the function of peptidases in normal muscle is obscure, this abnormality suggests that proteases may participate in posttranslational modification of ...
W T, Stauber +4 more
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Fluorescent protease histochemical analysis of muscle biopsy specimens from two patients with nemaline myopathy revealed the apparent absence of one proteolytic enzyme, dipeptidyl peptidase. Although the function of peptidases in normal muscle is obscure, this abnormality suggests that proteases may participate in posttranslational modification of ...
W T, Stauber +4 more
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Mixed nemaline-mitochondrial ?myopathy?
Acta Neuropathologica, 1980A 4-year-old boy suffering from a nonprogressive muscular weakness had a muscle biopsy which ultrastructurally showed large aggregates of nemaline bodies and mitochondria in myofibers; occasional concentric lamellated bodies were present as well. The mitochondria were mostly at the periphery of collections of nemaline bodies, less commonly in their ...
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Abstract This chapter presents a 58-year-old woman with progressive weakness, dysphagia, and dyspnea, ultimately diagnosed with sporadic late-onset nemaline myopathy. She has a complex history that includes antiphospholipid antibody syndrome, pulmonary hypertension, monoclonal gammopathy, positive antinuclear antibody (ANA), and ...
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CONGENITAL MYOPATHIES: NEMALINE MYOPATHIES
Neuromuscular Disorders, 2019J. Tinklenberg +16 more
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