Results 131 to 140 of about 27,107 (181)
X-Linked Myotubular Myopathy in a Family With Three Adult Survivors
Clinical Genetics, 2003 We describe a family with an extremely mild form of X-linked myotubular myopathy. Three affected males survived to adulthood with sufficient muscle strength to enable them to carry out normal daily activities.
Eric Haan
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X-Linked Myotubular Myopathy Due to a Complex Rearrangement Involving a Duplication of MTM1 Exon 10
Neuromuscular Disorders, 2012 X-linked myotubular myopathy is a predominantly severe congenital myopathy with central nuclei on muscle biopsy due to mutations in the MTM1 gene encoding myotubularin. We report a boy with typical features of X-linked myotubular myopathy.
Heinz Jungbluth +2 more
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X-Linked Myotubular and Centronuclear Myopathies. [PDF]
Journal of Neuropathology and Experimental Neurology, 2005 Recent work has significantly enhanced our understanding of the centronuclear myopathies and, in particular, myotubular myopathy. These myopathies share similar morphologic appearances with other diseases, namely the presence of hypotrophic myofibers with prominent internalized or centrally placed nuclei.
Alan H. Beggs, Christopher R Pierson
exaly +3 more sources
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Centronuclear ("Myotubular") Myopathy
Archives of Neurology, 1969IN 1966 Spiro and co-workers1reported a 12-year-old boy with slowly progressive weakness from infancy who had unusual muscle fibers with centrally placed nuclei. Histochemical alterations in the central portions of the muscle fibers were noted. Because of similarities between these muscle fibers and the myotubular stage of embryogenesis, the authors ...
T L, Munsat, L R, Thompson, R F, Coleman
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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
openaire +2 more sources
X-Linked Myotubular Myopathy and Chylothorax
Neuromuscular Disorders, 2008X-linked myotubular myopathy usually presents at birth with hypotonia and respiratory distress. Phenotypic presentation, however, can be extreme variable. We report on a newborn baby, who presented with the severe form of the disease. In the second week of life, he developed a clinically relevant chylothorax, needing drainage and treatment with ...
Koenraad Smets
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Large Duplication in MTM1 Associated With Myotubular Myopathy [PDF]
Neuromuscular Disorders, 2013 Myotubular myopathy is a subtype of centronuclear myopathy with X-linked inheritance and distinctive clinical and pathologic features. Most boys with myotubular myopathy have MTM1 mutations. In remaining individuals, it is not clear if disease is due to an undetected alteration in MTM1 or mutation of another gene.
J J Dowling, K Amburgey, A H Beggs
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Russian neurological journal, 2023
Myotubular (centronuclear) myopathy is a rare hereditary disease with primary muscle damage and clinical manifestations of congenital myopathy. The article describes a clinical case of myotubular myopathy in a boy who was observed by us from the age of 2 months to 2 years 5 months. The disease was manifested by muscle weakness, hypotension, respiratory
L. B. Novikova +4 more
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Myotubular (centronuclear) myopathy is a rare hereditary disease with primary muscle damage and clinical manifestations of congenital myopathy. The article describes a clinical case of myotubular myopathy in a boy who was observed by us from the age of 2 months to 2 years 5 months. The disease was manifested by muscle weakness, hypotension, respiratory
L. B. Novikova +4 more
openaire +1 more source
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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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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