Results 151 to 160 of about 2,741 (208)
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Muscle & Nerve, 1982
AbstractTwo patients, a father and his 14‐year‐old son, were suffering from a facioperoneal syndrome, and muscle biopsy findings were consistent with a myotubular myopathy. The father exhibited central nuclei in most muscle fibers, but his son had typical changes exclusively in hypotrophic type I fibers.
L, Edström, R, Wróblewski, W G, Mair
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AbstractTwo patients, a father and his 14‐year‐old son, were suffering from a facioperoneal syndrome, and muscle biopsy findings were consistent with a myotubular myopathy. The father exhibited central nuclei in most muscle fibers, but his son had typical changes exclusively in hypotrophic type I fibers.
L, Edström, R, Wróblewski, W G, Mair
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Anasthesia in myotubular (centronuclear) myopathy
Anaesthesia, 2000A patient with a known history of myotubular myopathy presented for surgery for insertion of a tibial nail. Anasthesia was induced and maintained using an intravenous anasthetic technique. Neuromuscular function was assessed using mechanomyography, which showed a profound reduction in muscle contractility.
D, Breslin +3 more
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Orthopaedic Complications of Myotubular Myopathy
Journal of Pediatric Orthopaedics, 2007Myotubular myopathy is a rare genetic disease that was uniformly fatal until recent developments in long-term ventilation. Today, however, it is not unusual for a patient to live into the second decade. The orthopaedic manifestations of the disease have not been reported in the literature.
Patrick J, Cahill +2 more
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X-Linked Neonatal Myotubular Myopathy
Southern Medical Journal, 1984We have described a family with X-linked myotubular myopathy that was clinically manifest in the neonatal period and compared it with the clinical picture and course of the disease in similar reported cases. Clinical expression of the disease in the newborn period is not always lethal.
G P, Giacoia, J E, Hale
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2011
Abstract This chapter provides pictures and clinical details of MYOTUBULAR ...
Roger E. Stevenson +2 more
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Abstract This chapter provides pictures and clinical details of MYOTUBULAR ...
Roger E. Stevenson +2 more
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Myotubular, centronuclear or peri-centronuclear myopathy?
Journal of the Neurological Sciences, 1969Abstract A female child who died at the age of 27 months from an intercurrent pulmonary infection secondary to severe generalised hypotonia, muscular atrophy and weakness, showed clinical and pathological features previously described in patients with myotubular or centronuclear myopathy. She was noted to have multiple extra-ocular palsies and facial
M J, Campbell, J J, Rebeiz, J N, Walton
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Myotubular (Centronuclear) (Neuro-)Myopathy
European Neurology, 1977Five new cases of myotubular (centronuclear) (neuro-)myopathy are presented. Myometric studies revealed type I fibre atrophy and mispositioned nuclei, at various stages between the myotubular ...
H. Radu, I. Killyen, V. Ionescu, A. Radu
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Nemaline and myotubular myopathies
Seminars in Pediatric Neurology, 2002Nemaline myopathy is caused by mutations in one of at least six different genes. The clinical picture also varies widely, in terms of the grade and the distribution of muscle weakness. In familial cases, autosomal-recessive inheritance is more common than autosomal-dominant inheritance, and in some patients the disorder is caused by new dominant ...
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Muscle histochemistry in myotubular (centronuclear) myopathy
Brain and Development, 1989We report the clinical and histochemical findings in 7 patients with myotubular (centronuclear) myopathy aged from 2 months to 32 years. The clinical symptoms varied from patient to patient. Three patients developed severe muscle weakness and hypotonia with respiratory distress from infancy, and 4 had muscle weakness from 2-5 years of age with no ...
T, Sasaki +4 more
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Archives of Neurology, 1966
FOR SEVERAL WEEKS prior to the formation of mature muscle cells, the process of which is virtually completed by the fifth fetal month in humans,1the cell exists as a myotube. Similar muscle cells were seen in the biopsy of an adolescent boy with a muscle-wasting disorder.
A J, Spiro, G M, Shy, N K, Gonatas
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FOR SEVERAL WEEKS prior to the formation of mature muscle cells, the process of which is virtually completed by the fifth fetal month in humans,1the cell exists as a myotube. Similar muscle cells were seen in the biopsy of an adolescent boy with a muscle-wasting disorder.
A J, Spiro, G M, Shy, N K, Gonatas
openaire +2 more sources