FKRP

AcronymDefinition
FKRPFukutin-Related Protein (gene)
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in 2002.[32] So far, 11 more genes have been implicat in WWS, including POMT2, FKRP, FKTN, ISPD, CTDC2, TMEM5, POMGNT1, B3GALNT2, GMPPB, B3GNT1 , and SGK196 .
Besides MDC1C and LGMD2I caused by pathogenic mutations in FKRP gene, CMD/LGMD without MR was also reported in patients with mutations of other three genes, including FKTN, ISPD , and GMPPB .
CMD/LGMD with MR is a subtype in the intermediate of the clinical spectrum of aDG-RD, characterized by early onset of muscle weakness, usually before ambulation is achieved; mental retardation and mild brain anomalies are variable.[38] The causative genes of the subtype include FKRP, POMT1, POMT2, ISPD , and GMPPB .
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.
Genetic and Clinical Advances of Congenital Muscular Dystrophy
Agata Robertson and Hanns Lochmuller participated in the Fukutin Related Protein (FKRP) dataset extraction.
Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer
Bu hastalarda en sik tanimlanan mutasyonlar FKRP geninde olmasina karsin olgumuzda bu gende ve diger genlerde bir mutasyon bulunamadi (23).
Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.
FKRP gene mutations cause congenital muscular dystrophy, mental retardation and cerebellar cysts.
Evaluation of cases with congenital muscular dystrophy/konjenital muskuler distrofili hastalarimizin degerlendirilmesi
Recently, a patient diagnosed with WWS and a patient diagnosed with MEB were found to have a mutated FKRP gene (169).
(164) investigated 86 Brazilian LGMD genealogies and identified 4 persons with novel homozygous FKRP gene mutations who were asymptomatic.
Diagnosis: As the function of FKRP is unknown at present, the diagnosis can be confirmed only at the molecular genetic level (163, 167, 169).
Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin [alpha]2 deficiency and abnormal glycosylation of [alpha]-dystroglycan.
Mechanisms in protein O-glycan biosynthesis and clinical and molecular aspects of protein O-glycan biosynthesis defects: a review
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