Work

Mutations in the Fukutin-Related Protein Gene (FKRP) Cause a Form of Congenital Muscular Dystrophy with Secondary Laminin α2 Deficiency and Abnormal Glycosylation of α-Dystroglycan

Year: 2001

Type: article

Study design: Observational Study

Source: The American Journal of Human Genetics

DOI: 10.1086/324412

Authors: Martin Brockington, Derek J. Blake, Paola Prandini, Susan C. Brown, Silvia Torelli, Matthew A. Benson, Chris P. Ponting, Brigitte Estournet, Norma B. Romero, Eugenio Mercuri, Thomas Voit, Caroline A. Sewry, Pascale Guicheney, Francesco Muntoni

Institutions: Hammersmith Hospital, Imperial College London, University of Oxford, University of Cagliari, Hôpital Raymond-Poincaré, Inserm, Institut de Myologie, Pitié-Salpêtrière Hospital, University of Duisburg-Essen, Robert Jones and Agnes Hunt Orthopaedic Hospital

Language: English

Topic: Muscle Physiology and Disorders

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

Funders: Association Française contre les Myopathies, Wellcome Trust, European Commission, Deutsche Forschungsgemeinschaft, Institut National de la Santé et de la Recherche Médicale, Università degli Studi di Padova, Muscular Dystrophy UK

Awards: G2887254030, G6458120311

OpenAlex ID: W2061697489

FWCI: 9.906

Cites: 41

Cited by: 612

Related to: 10