TY - JOUR AU - Leung, Doris G. AU - Bocchieri, Alex E. AU - Ahlawat, Shivani AU - Jacobs, Michael A. AU - Parekh, Vishwa S. AU - Braverman, Vladimir AU - Summerton, Katherine AU - Mansour, Jennifer AU - Bibat, Genila AU - Morris, Carl AU - Marraffino, Shannon AU - Wagner, Kathryn R. PY - 2020 DA - 2020/05/19 TI - Longitudinal functional and imaging outcome measures in FKRP limb-girdle muscular dystrophy JO - BMC Neurology SP - 196 VL - 20 IS - 1 AB - Pathogenic variants in the FKRP gene cause impaired glycosylation of α-dystroglycan in muscle, producing a limb-girdle muscular dystrophy with cardiomyopathy. Despite advances in understanding the pathophysiology of FKRP-associated myopathies, clinical research in the limb-girdle muscular dystrophies has been limited by the lack of normative biomarker data to gauge disease progression. SN - 1471-2377 UR - https://doi.org/10.1186/s12883-020-01774-5 DO - 10.1186/s12883-020-01774-5 ID - Leung2020 ER -