Associated Papers
Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients.
Unnikrishnan G et al.
Journal of Neuromuscular Diseases, 2023
Are all the previously reported genetic variants in limb girdle muscular dystrophy genes pathogenic?
Di Fruscio G et al.
European Journal of Human Genetics : Ejhg, 2016
25898921 (PubMed )
Supplement: ejhg201576x2.xls › Foglio1
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
Mutation analysis in the FKRP gene provides an explanation for a rare cause of intrafamilial clinical variability in LGMD2I.
Vieira NM et al.
Neuromuscular Disorders : Nmd, 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
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