Associated Papers
Investigating the dual role of mitochondrial and nuclear genome variants in pediatric cardiomyopathies.
Temena MA et al.
Scientific Reports, 2025
40369053 (PubMed )
Supplement: 41598_2025_1007_MOESM2_ESM.xlsx › Table_1C
Molecular Study of the Fukutin-Related Protein (FKRP) Gene in Patients from Southern Italy with Duchenne/Becker-like Phenotype.
Qualtieri A et al.
International Journal of Molecular Sciences, 2024
Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients.
Unnikrishnan G et al.
Journal of Neuromuscular Diseases, 2023
Pathogenic Mutations and Putative Phenotype-Affecting Variants in Polish Myofibrillar Myopathy Patients.
Potulska-Chromik A et al.
Journal of Clinical Medicine, 2021
33652732 (PubMed )
Supplement: jcm-10-00914-s001.zip › jcm-1102563-supplementary.xlsx › Variants_after_filtering
Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9.
Murphy LB et al.
Annals of Clinical and Translational Neurology, 2020
32342672 (PubMed )
Supplement: ACN3-7-757-s001.pdf
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.
Punetha J et al.
Journal of Neuromuscular Diseases, 2016
Next-generation DNA sequencing of a Swedish malignant hyperthermia cohort.
Broman M et al.
Clinical Genetics, 2015
[Clinical-genetic analysis of limb-girdle muscular dystrophy 2 type I].
Ryzhkova OP et al.
Zhurnal Nevrologii I Psikhiatrii Imeni S.s. Korsakova, 2012
Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.
Manzini MC et al.
Human Mutation, 2008
Molecular heterogeneity in fetal forms of type II lissencephaly.
Bouchet C et al.
Human Mutation, 2007
Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs.
Fischer D et al.
Journal of Neurology, 2005
FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients.
Walter MC et al.
Journal of Medical Genetics, 2004
Fukutin-related protein gene mutated in the original kindred limb-girdle MD 2I.
Driss A et al.
Neurology, 2003
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 M et al.
American Journal of Human Genetics, 2001
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