A new mutation of the fukutin gene causing late-onset limb girdle muscular dystrophy |
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| Authors: | M. Riisager M. Duno F. Juul Hansen T.O. Krag C.R. Vissing J. Vissing |
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| Affiliation: | 1. Department of Cardiology, Royal Brisbane and Women''s Hospital, Brisbane, Queensland, Australia;2. Genetic Health Queensland, Royal Brisbane and Women''s Hospital, Brisbane, Queensland, Australia;3. University of Queensland School of Medicine, Brisbane, Queensland, Australia;1. Department of Cardiology, University Hospital “Thalassotherapia Opatija”, School of Medicine, University of Rijeka, 51410 Opatija, Croatia;2. Department of Radiology, University Hospital “Thalassotherapia Opatija”, School of Medicine, University of Rijeka, 51410 Opatija, Croatia;1. Department of Clinical Neurophysiology, Hospices Civils de Lyon, Croix-Rousse University Hospital, Lyon, France;2. Department of Neuropathology, Hospices Civils de Lyon, Neurology and Neurosurgery Pierre Wertheimer University Hospital, Lyon, France;3. Department of Internal Medicine and Clinical Immunology (DHU i2B), Assistance Publique – Hôpitaux de Paris, Pitié-Salpêtrière University Hospital, Paris, France;4. Sorbonne Universités, Université Pierre et Marie-Curie Paris 6, Myology Research Center UMR 974, INSERM, Paris U974, France;5. Department of Molecular Endocrinology and Rare Diseases, Hospices Civils de Lyon, Lyon, France;6. Department of Neurology, Montelimar Hospital Center, Montelimar, France |
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| Abstract: | Defects in glycosylations of α-dystroglycan are associated with mutations in several genes, including the fukutin gene (FKTN). Hypoglycosylation of α-dystroglycan results in several forms of muscular dystrophy with variable phenotype. Outside Japan, the prevalence of muscular dystrophies related to aberrations of FKTN is rare, with only eight reported cases of limb girdle phenotype (LGMD2M). We describe the mildest affected patient outside Japan with genetically confirmed LGMD2M and onset of symptoms at age 14. She was brought to medical attention at age 12, not because of muscle weakness, but due to episodes of tachycardia caused by Wolff–Parkinson–White syndrome. On examination, she had rigid spine syndrome, a typical limb girdle dystrophy pattern of muscle weakness, cardiomyopathy, and serum CK levels >2000 IU/L (normal <150 IU/L). A homozygous, novel c.917A>G; p.Y306C mutation in the FKTN gene was found. The case confirms FKTN mutations as a cause of LGMD2M without mental retardation and expands the phenotypic spectrum for LGMD2M to include cardiomyopathy and rigid spine syndrome in the mildest affected non-Japanese patient reported so far. |
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| Keywords: | Fukutin gene Alfa-dystroglycan Alfa-dystroglycanopathies Limb girdle Fukuyama type congenital muscular dystrophy |
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