References in periodicals archive ?
in 2002. 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. 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.
Agata Robertson and Hanns Lochmuller participated in the Fukutin Related Protein (FKRP) dataset extraction.
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.
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.
Acronyms browser ?
Full browser ?