| Facioscapulohumeral (FSHD1) and other forms of muscular dystrophy in the same family: is there more in muscular dystrophy than meets the eye? |
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| 引用本文： | Tonini MM,Passos-Bueno MR,Cerqueira A,Pavanello R,Vainzof M,Dubowitz V,Zatz M. Facioscapulohumeral (FSHD1) and other forms of muscular dystrophy in the same family: is there more in muscular dystrophy than meets the eye?[J]. Neuromuscular disorders : NMD, 2002, 12(6): 554-557. DOI: 10.1016/S0960-8966(02)00014-7 |
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| 作者姓名： | Tonini MM Passos-Bueno MR Cerqueira A Pavanello R Vainzof M Dubowitz V Zatz M |
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| 摘 要： |
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| 收稿时间： | 2001-10-10 |
Facioscapulohumeral (FSHD1) and other forms of muscular dystrophy in the same family: is there more in muscular dystrophy than meets the eye? |
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| Tonini M M O,Passos-Bueno M R,Cerqueira A,Pavanello R,Vainzof M,Dubowitz V,Zatz M. Facioscapulohumeral (FSHD1) and other forms of muscular dystrophy in the same family: is there more in muscular dystrophy than meets the eye?[J]. Neuromuscular disorders : NMD, 2002, 12(6): 554-557. DOI: 10.1016/S0960-8966(02)00014-7 |
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| Authors: | Tonini M M O Passos-Bueno M R Cerqueira A Pavanello R Vainzof M Dubowitz V Zatz M |
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| Affiliation: | 1. Center for the study of Human Genome, Department of Biology, University of São Paulo, Rua do Matão, 277, CEP 05508-900, São Paulo, Brazil;2. Department of Paediatrics, The Dubowitz Neuromuscular Centre, Imperial College School of Medicine-Hammersmith Hospital, London, UK;1. Menzies Institute for Medical Research, University of Tasmania, Private Bag 23, Hobart, Tasmania 7001, Australia;2. Eastwood Physiotherapy, Adelaide, Australia;3. Adelaide West Pilates & Physiotherapy, Adelaide, Australia;4. BJC Health, Sydney, Australia;5. S-E Area Health Service/Calvary Healthcare Kogarah, Sydney, Australia;6. Royal Perth Hospital, Perth, Australia;7. Hydrohealth, Brisbane, Australia;8. Physio Plus, Ballina and Lismore, Australia;9. Melbourne, Australia;10. Curtin University, Perth, Australia;11. Faculty of Health, University of Tasmania, Hobart, Tasmania, Australia;1. Neuroscience Research Australia, Sydney, Australia;2. Prince of Wales Clinical School, Faculty of Medicine, University of New South Wales, Sydney, Australia;3. School of Medical Sciences, Faculty of Medicine, University of New South Wales, Sydney, Australia;1. Department of Orthopedics and Rehabilitation, University of Vermont College of Medicine, Burlington, VT, USA;2. Department of Orthopedics and Rehabilitation, University of Vermont Medical Center, South Burlington, VT, USA;1. Centre for Global Public Health, Department of Community Health Sciences, Faculty of Medicine, University of Manitoba, Canada;2. Department of Communication, College of Liberal and Fine Arts, University of Texas at San Antonio, United States;1. Universidad Católica del Maule, Department of Diversity and Educational Inclusiveness, Talca, Chile;2. Universidad Católica de Santa María, Arequipa, Peru;3. Center for Research, CINEMAROS, Arequipa, Peru;4. Universidad del Bio Bio, Chillán, Chile;5. Universidad San Sebastián, Concepción, Chile;6. Universidad Privada San Juan Bautista, Lima, Peru;7. Universidad Católica del Maule, Doctorate Program in Physical Activity Sciences, Talca, Chile;1. Department of Obstetrics and Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China;2. Wuhan KDWS Biological Technology Co.,Ltd, Wuhan, 430000, China;3. Maternal and Child Health Hospital of Hubei Province, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430070, China |
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| Abstract: | We report on two unrelated Brazilian families with members affected by two different forms of muscular dystrophy. In the first one, the 35-year-old male proband has limb-girdle muscular dystrophy with proximal weakness, elevated creatine kinase and a myopathic muscle biopsy. All the proteins known to be associated with limb-girdle muscular dystrophy were normal. Two of his sisters also complained of muscle weakness. The oldest sister showed clinical signs consistent with facioscapulohumeral muscular dystrophy, confirmed through molecular analysis. She presented a 30 kb EcoRI/BlnI fragment which was found in another six relatives, but surprisingly not in the affected proband or the other sister. In the second family, a 57-year-old male with a typical facioscapulohumeral muscular dystrophy phenotype has a 17 kb EcoRI/BlnI fragment, which was also present in other affected relatives. However in a 14-year-old severely affected male cousin, confined to a wheelchair since age 12, but without facial weakness, the small fragment was absent. These families illustrate the importance of testing all affected individuals in a family. |
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