Vis enkel innførsel

dc.contributor.authorMurphy, Lindsay B.
dc.contributor.authorSchreiber-Katz, Olivia
dc.contributor.authorRafferty, Karen
dc.contributor.authorRobertson, Agata
dc.contributor.authorTopf, Ana
dc.contributor.authorWillis, Tracey A.
dc.contributor.authorHeidemann, Marcel
dc.contributor.authorThiele, Simone
dc.contributor.authorBindoff, Laurence
dc.contributor.authorLaurent, Jean-Pierre
dc.contributor.authorLochmüller, Hanns
dc.contributor.authorMathews, Katherine
dc.contributor.authorMitchell, Claudia
dc.contributor.authorStevenson, John Herbert
dc.contributor.authorVissing, John
dc.contributor.authorWoods, Lacey
dc.contributor.authorWalter, Maggie C.
dc.contributor.authorStraub, Volker
dc.date.accessioned2021-02-25T11:34:27Z
dc.date.available2021-02-25T11:34:27Z
dc.date.created2021-01-11T12:06:40Z
dc.date.issued2020-04
dc.PublishedAnnals of clinical and translational neurology. 2020, 7 (5), 757-766.
dc.identifier.issn2328-9503
dc.identifier.urihttps://hdl.handle.net/11250/2730367
dc.description.abstractObjective The Global FKRP Registry is a database for individuals with conditions caused by mutations in the Fukutin‐Related Protein (FKRP) gene: limb girdle muscular dystrophy R9 (LGMDR9, formerly LGMD2I) and congenital muscular dystrophies MDC1C, Muscle–Eye–Brain Disease and Walker–Warburg Syndrome. The registry seeks to further understand the natural history and prevalence of FKRP‐related conditions; aid the rapid identification of eligible patients for clinical studies; and provide a source of information to clinical and academic communities. Methods Registration is patient‐initiated through a secure online portal. Data, reported by both patients and their clinicians, include: age of onset, presenting symptoms, family history, motor function and muscle strength, respiratory and cardiac function, medication, quality of life and pain. Results Of 663 registered participants, 305 were genetically confirmed LGMDR9 patients from 23 countries. A majority of LGMDR9 patients carried the common mutation c.826C > A on one or both alleles; 67.9% were homozygous and 28.5% were compound heterozygous for this mutation. The mean ages of symptom onset and disease diagnosis were higher in individuals homozygous for c.826C > A compared with individuals heterozygous for c.826C > A. This divergence was replicated in ages of loss of running ability, wheelchair‐dependence and ventilation assistance; consistent with the milder phenotype associated with individuals homozygous for c.826C > A. In LGMDR9 patients, 75.1% were currently ambulant and 24.6%, nonambulant (unreported in 0.3%). Cardiac impairment was reported in 23.2% (30/129). Interpretation The Global FKRP Registry enables the collection of patient natural history data, which informs academics, healthcare professionals and industry. It represents a trial‐ready cohort of individuals and is centrally placed to facilitate recruitment to clinical studies.en_US
dc.language.isoengen_US
dc.publisherWileyen_US
dc.rightsNavngivelse 4.0 Internasjonal*
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/deed.no*
dc.titleGlobal FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9en_US
dc.typeJournal articleen_US
dc.typePeer revieweden_US
dc.description.versionpublishedVersionen_US
dc.rights.holderCopyright the authorsen_US
cristin.ispublishedtrue
cristin.fulltextoriginal
cristin.qualitycode1
dc.identifier.doi10.1002/acn3.51042
dc.identifier.cristin1868849
dc.source.journalAnnals of clinical and translational neurologyen_US
dc.source.407
dc.source.145
dc.source.pagenumber757-766en_US
dc.source.volume7en_US
dc.source.issue5en_US


Tilhørende fil(er)

Thumbnail

Denne innførselen finnes i følgende samling(er)

Vis enkel innførsel

Navngivelse 4.0 Internasjonal
Med mindre annet er angitt, så er denne innførselen lisensiert som Navngivelse 4.0 Internasjonal