title: Early-onset limb-girdle muscular dystrophy-2L in a female athlete.
authors.affiliation: Center for Individualized Medicine, Department of Clinical Genomics, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, Florida, 32224, USA.
authors.forename: Patrick R
authors.initials: PR
authors.lastname: Blackburn
authors.affiliation: Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA.
authors.forename: Duygu
authors.initials: D
authors.lastname: Selcen
authors.affiliation: Center for Individualized Medicine, Department of Clinical Genomics, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, Florida, 32224, USA.
authors.forename: Jessica L
authors.initials: JL
authors.lastname: Jackson
authors.affiliation: Center for Individualized Medicine, Department of Clinical Genomics, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, Florida, 32224, USA.
authors.forename: Kimberly J
authors.initials: KJ
authors.lastname: Guthrie
authors.affiliation: Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.
authors.forename: Margot A
authors.initials: MA
authors.lastname: Cousin
authors.affiliation: Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.
authors.forename: Nicole J
authors.initials: NJ
authors.lastname: Boczek
authors.affiliation: Center for Individualized Medicine, Department of Clinical Genomics, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, Florida, 32224, USA.
authors.forename: Kristin E
authors.initials: KE
authors.lastname: Clift
authors.affiliation: Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.|Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.
authors.forename: Eric W
authors.initials: EW
authors.lastname: Klee
authors.affiliation: Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA.
authors.forename: Elliot L
authors.initials: EL
authors.lastname: Dimberg
authors.affiliation: Center for Individualized Medicine, Department of Clinical Genomics, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, Florida, 32224, USA.
authors.forename: Paldeep S
authors.initials: PS
authors.lastname: Atwal
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000075368:Anoctamins / Q000235:genetics; D056352:Athletes; D005260:Female; D005541:Forced Expiratory Volume; D006801:Humans; D008168:Lung / Q000503:physiopathology; D008451:Maximal Voluntary Ventilation; D018908:Muscle Weakness / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D018482:Muscle, Skeletal / Q000473:pathology / Q000503:physiopathology; D009133:Muscular Atrophy / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D049288:Muscular Dystrophies, Limb-Girdle / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D009431:Neural Conduction; D055815:Young Adult
chemical_list: C547813:ANO5 protein, human; D000075368:Anoctamins
keywords: ANO5; LGMD2L; anoctamin-5; limb-girdle muscular dystrophy-2L; muscular dystrophy; next generation sequencing