Associated Papers
Diagnostic delay in patients with FKRP-related muscular dystrophy.
Coffey LN et al.
Neuromuscular Disorders : Nmd, 2021
Defective autophagy and increased apoptosis contribute toward the pathogenesis of FKRP-associated muscular dystrophies.
Ortiz-Cordero C et al.
Stem Cell Reports, 2021
The outcomes and experience of pregnancy in limb girdle muscular dystrophy type R9.
Libell EM et al.
Muscle & Nerve, 2021
Late-onset myopathies: clinical features and diagnosis.
de Visser M
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2020
Cardiomyopathy in limb girdle muscular dystrophy R9, FKRP related.
Libell EM et al.
Muscle & Nerve, 2020
Childhood Activity on Progression in Limb Girdle Muscular Dystrophy 2I.
Brun BN et al.
Journal of Child Neurology, 2017
Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with Limb Girdle Muscular Dystrophy 2I.
Stensland E et al.
Neuromuscular Disorders : Nmd, 2011
Clinical and mutational spectrum of limb-girdle muscular dystrophy type 2I in 11 French patients.
Bourteel H et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2009
Muscle protein alterations in LGMD2I patients with different mutations in the Fukutin-related protein gene.
Yamamoto LU et al.
The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society, 2008
High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark.
Sveen ML et al.
Annals of Neurology, 2006
Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum.
de Paula F et al.
European Journal of Human Genetics : Ejhg, 2003
Glycosylation defects: a new mechanism for muscular dystrophy?
Grewal PK et al.
Human Molecular Genetics, 2003
Phenotypic spectrum associated with mutations in the fukutin-related protein gene.
Mercuri E et al.
Annals of Neurology, 2003
Defective glycosylation in muscular dystrophy.
Muntoni F et al.
Lancet (london, England), 2002
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 M et al.
Human Molecular Genetics, 2001