Epidemiology and natural history in 101 subjects with FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020)-Reference-Cited by-同舟云学术

Epidemiology and natural history in 101 subjects with FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020)

Published:2023-02 Issue:2 Volume:33 Page:119-132
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Jensen Synnøve M.^ORCID,Müller Kai Ivar,Mellgren Svein Ivar,Bindoff Laurence A.,Rasmussen Magnhild,Ørstavik Kristin,Jonsrud Christoffer,Tveten Kristian,Nilssen Øivind,Van Ghelue Marijke,Arntzen Kjell Arne

Funder

Northern Norway Regional Health Authority

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference60 articles.

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2. 229th ENMC international workshop: limb girdle muscular dystrophies - nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017;Straub;Neuromuscul Disord,2018

3. Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C;Brockington;Hum Mol Genet,2001

4. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan;Brockington;Am J Hum Genet,2001

5. Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome;Beltran-Valero de Bernabé;J Med Genet,2004

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