-
Muscle tissue in patients with Limb girdle muscular dystrophy type 2I who have the founder mutation c.545A>G in FKRP shows a distinctive concentric pattern of fatty infiltration and edema on MRI.
-
The FKRP-related disorders should be included as a differential diagnosis in Mexican patients with neuromuscular disorders and normal results on DMD gene deletion/duplication analysis. This and previous reports, along with data from the main genotype databases, collectively suggest that in Mexico the FKRP-related disorders are due to the p.(Asn463Asp) and the common European p.(Leu276Ile) pathogenic variants.
-
The results suggest that fukutin and FKRP not only participate in the synthesis of O-mannosyl glycans added to alpha-dystroglycan in the endoplasmic reticulum and Golgi complex, but that they could also play a role, that remains to be established, in the nucleus of retinal neurons.
-
This literature review revealed that pathogenic mutations in the FKRP gene in Asian LGMD2I patients are compound heterozygous rather than homozygous.
-
Next generation and Sanger sequencing were performed for I-2. Heterozygous FKRP mutations were identified in exon 4: c.1167_1168delGC, p.Gly391Leufs *72 and c.501_502GT>CC, p.Arg167Ser, p.Cys168Arg
-
Fukutin, FKRP, and TMEM5 form a complex while maintaining each of their enzyme activities. Data showed that endogenous fukutin and FKRP enzyme activities coexist with TMEM5 enzyme activity, and suggest the possibility that formation of this enzyme complex may contribute to specific and prompt biosynthesis of glycans that are required for dystroglycan function.
-
This study have demonstrated that the clinical heterogeneity in LGMD2I patients, homozygous for FKRP c.826C>A, cannot be explained by histopathological alterations, levels of alpha-DG hypoglycosylation or laminin alpha2 depletion.
-
Dystrophic Pathology in Diaphragm and Impairment of Cardiac Function in FKRP P448L Mutant Mice
-
The 13 novel mutations of FKRP significantly expanded the mutation spectrum of MDC1C and LGMD2I, and the different founder mutations indicate the ethnic difference in FKRP mutations.
-
Fukutin and fukutin-related protein are sequentially acting Rbo5P transferases that use cytidine diphosphate ribitol.
-
Muscular dystrophies can present with rhabdomyolysis; FKRP mutations are particularly frequent in causing such complication.
-
This provide a new mouse model of Limb-Girdle Muscular Dystrophy Type 2I homozygous for the Common L276I Mutation.
-
This study demonistrated that the higher frequency of LGMD2I with cardiomyopathy in mutation of FKRP in Taiwanese patients.
-
FKRP co-localises with the middle-to-trans-Golgi marker MG160, between the myofibrils in human rectus femoris muscle fibres.
-
Mutations in FKRP lead to a glycosylation defect and subsequently downregulation of alpha-dystroglycan which constitutes an essential component of the proteoglycan-dystrophin complex.
-
Study revealed a large homozygous block at the LGMD2I locus, and direct sequencing of FKRP encoding fukutin-related-protein detected the common homozygous c.826 C>A (p.Leu276Ile) mutation.
-
Two novel heterozygous mutations (c.208T>A and c.1030G>T) in the FKRP gene were identified in Chinese brothers with progressive shoulder and pelvic muscle weakness
-
This study identified FKRP mutations on both alleles in 88 patients from 69 families with Limb Girdle Muscular Dystrophy Type 2I.
-
two siblings carrying a homozygous mutation in the start codon of FKRP that is likely to result in a loss of functional FKRP protein. The clinical phenotype of the patients was consistent with Walker-Warburg syndrome
-
our study confirms that typical clinical symptoms (calf hypertrophy, cardiac involvement, mild LGMD) of LGMD2I due the homozygous c.826C[A mutation, are rather frequent in Germany
