Condition: Muscular Dystrophies, Limb-Girdle


rs28937900 in FKRP gene and Muscular Dystrophies, Limb-Girdle PMID 15580560 2005 A second LGMD locus, LGMD2I, was identified in chromosome region 19q13.3, and the causative mutation was identified as c.826C>A (L276I), a missense mutation in the FKRP gene.

PMID 19820980 2010 Frequency of the FKRP mutation c.826C>A in isolated hyperCKemia and in limb girdle muscular dystrophy type 2 in German patients.

PMID 25560911 2015 Diagnostic clues and manifesting carriers in fukutin-related protein (FKRP) limb-girdle muscular dystrophy.

PMID 17554798 2007 Fukutin-related protein localizes to the Golgi apparatus and mutations lead to mislocalization in muscle in vivo.

PMID 15833432 2005 Dilated cardiomyopathy may be an early sign of the C826A Fukutin-related protein mutation.

PMID 19900540 2010 Mutations alter secretion of fukutin-related protein.

PMID 12666124 2003 Phenotypic spectrum associated with mutations in the fukutin-related protein gene.

PMID 26833294 2016 An irish case of limb-girdle muscular dystrophy 2I with structural eye involvement.

PMID 11741828 2001 Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.

PMID 15574464 2005 Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells.

PMID 18593008 2006 LGMD 2I due to the common mutation 826C>A in the FKRP gene presenting as myopathy with vacuoles and paired-helical filaments.

PMID 21228398 2011 Carrier testing for severe childhood recessive diseases by next-generation sequencing.

PMID 25048216 2014 Muscle and heart function restoration in a limb girdle muscular dystrophy 2I (LGMD2I) mouse model by systemic FKRP gene delivery.

PMID 22264518 2012 Cortical heterotopia in LGMD2I.

PMID 23576288 2013 Subepicardial dysfunction leads to global left ventricular systolic impairment in patients with limb girdle muscular dystrophy 2I.

PMID 16634037 2006 High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark.

PMID 26363967 2015 Significant response to immune therapies in a case of subacute necrotizing myopathy and FKRP mutations.

PMID 19835634 2009 Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes.

PMID 24447024 2014 Clinical and muscle biopsy findings in Norwegian paediatric patients with limb girdle muscular dystrophy 2I.

PMID 26574668 2015 A New Mouse Model of Limb-Girdle Muscular Dystrophy Type 2I Homozygous for the Common L276I Mutation Mimicking the Mild Phenotype in Humans.

PMID 23591631 2013 Mouse models of fukutin-related protein mutations show a wide range of disease phenotypes.

PMID 15060126 2004 FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients.

rs140403642 in TRAPPC11 gene and Muscular Dystrophies, Limb-Girdle PMID 27707803 2017 A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima.

PMID 26322222 2015 Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype.