A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy.

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第一作者： Debbie,Hicks

第一单位： Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, UK.

作者： Debbie,Hicks ^[1] ; Anna,Sarkozy ^[1] ; Nuria,Muelas ^[2] ; Katrin,Köehler ^[3] ; Angela,Huebner ^[3] ; Gavin,Hudson ^[4] ; Patrick F,Chinnery ^[4] ; Rita,Barresi ^[5] ; Michelle,Eagle ^[1] ; Tuomo,Polvikoski ^[4] ; Geraldine,Bailey ^[6] ; James,Miller ^[7] ; Aleksander,Radunovic ^[8] ; Paul J,Hughes ^[9] ; Richard,Roberts ^[10] ; Sabine,Krause ^[11] ; Maggie C,Walter ^[11] ; Steven H,Laval ^[1] ; Volker,Straub ^[1] ; Hanns,Lochmüller ^[1] ; Kate,Bushby ^[1]

作者单位： Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, UK. ^[1] Department of Neurology, Hospital Universitario La Fe, Valencia, Spain. ^[2] Children's Hospital, Technical University Dresden, Dresden, Germany. ^[3] Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK. ^[4] Muscle Immunoanalysis Unit, Newcastle upon Tyne Hospitals Trust, Newcastle, UK. ^[5] Northern Genetics Service, Institute of Human Genetics, Newcastle upon Tyne, UK. ^[6] Department of Neurology, Royal Victoria Infirmary, Newcastle upon Tyne, UK. ^[7] Neurosciences Clinical Academic Unit, Royal London Hospital, London, UK. ^[8] Hurstwood Park Neurological Centre, Haywards Heath, West Sussex, UK. ^[9] Ninewells Hospital & Medical School, Ninewells, Dundee, UK. ^[10] Friedrich Baur Institute, Ludwig-Maximilians University, Munich, Germany. ^[11]