Jungbluth, H and Sewry, CA and Buj-Bello, A and Kristiansen, M and Orstavik, KH and Kelsey, A and Manzur, AY and Mercuri, E and Wallgren-Pettersson, C and Muntoni, F (2003) Early and severe presentation of X-linked myotubular myopathy in a girl with skewed X-inactivation. NEUROMUSCULAR DISORD , 13 (1) 55 - 59.
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X-linked myotubular myopathy is a severe congenital myopathy in males, caused by mutations in the myotubularin (MTM1) gene on chromosome Xq28. In heterozygous carriers of MTM1 mutations, clinical symptoms are usually absent or only mild.We report a 6-year-old girl presenting at birth with marked hypotonia and associated feeding and respiratory difficulties. A muscle biopsy performed at 5 months suggested a diagnosis of myotubular myopathy. On examination at 6 years she had marked facial weakness with bilateral ptosis and external ophthalmoplegia, severe axial and proximal weakness and a mild scoliosis. Muscle magnetic resonance imaging showed a distinctive pattern of muscle involvement.Molecular genetic investigation of the MTM1 gene identified a heterozygous mutation in exon 12. X-inactivation studies in lymphocytes showed an extremely skewed pattern (97:3).This case emphasizes that investigation of the MTM1 gene and X-inactivation studies are indicated in isolated females with histopathological and clinical findings suggestive of myotubular myopathy. (C) 2002 Elsevier Science,B.V. All rights reserved.
|Title:||Early and severe presentation of X-linked myotubular myopathy in a girl with skewed X-inactivation|
|Keywords:||X-linked myotubular myopathy, muscle, gene, MTM1 GENE-MUTATIONS, CHROMOSOME-INACTIVATION, CARRIERS, FAMILY, FEMALE, FORMS|
|UCL classification:||UCL > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Child Health > Department of Neurosciences and Mental Health > ICH - Dubowitz Neuromuscular Centre|
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