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A novel frameshift deletion in autosomal recessive SBF1-related syndromic neuropathy with necklace fibres |
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| Authors: | Gang Qiang Bettencourt Conceição Holton Janice Lovejoy Christopher Chelban Viorica Oconnor Emer Yuan Yun Reilly Mary M. Hanna Michael Houlden Henry |
| Affiliation: | 1.Department of Neurology, Peking University First Hospital, Beijing, 100034, People’s Republic of China ;2.Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, London, WC1N 3BG, UK ;3.MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, London, WC1N 3BG, UK ;4.The Queen Square Brain Bank for Neurological Disorders, UCL Queen Square Institute of Neurology, Queen Square, London, WC1N 3BG, UK ;5.Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, Queen Square, London, WC1N 3BG, UK ;6.Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, Queen Square, London, WC1N 3BG, UK ;7.Neurogenetics Laboratory, UCL Queen Square Institute of Neurology, Queen Square, London, WC1N 3BG, UK ; |
| Abstract: | Journal of Neurology - To identify the genetic cause of complex neuropathy in two siblings from a consanguineous family. The patients were recruited from our clinic. Muscle biopsy and whole-exome... |
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