Molecular Analysis Confirms that FKRP‐Related Disorders are Underdiagnosed in Mexican Patients with Neuromuscular Diseases
Sign Up to like & getrecommendations! Published in 2017 at "Neuropediatrics"
DOI: 10.1055/s-0037-1607054
Abstract: &NA; The FKRP ‐related disorders include the limb‐girdle muscular dystrophy type 2I (LGMD2I, MIM#607155) which has a clinical overlap with dystrophinopathies. Except for Brazil, LGMD2I has not been described in other Latin‐American countries, despite that… read more here.
Keywords: fkrp related; molecular analysis; related disorders; mexican patients ... See more keywords
Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients.
Sign Up to like & getrecommendations! Published in 2023 at "Journal of neuromuscular diseases"
DOI: 10.3233/jnd-221618
Abstract: BACKGROUND The phenotypic spectrum of Fukutin-related protein (FKRP) mutations is highly variable and comprises of limb girdle muscular dystrophy (LGMD) R9 (previously LGMD 2I) and FKRP related congenital muscular dystrophies. OBJECTIVE To identify the distinct… read more here.
Keywords: dystrophy; fkrp related; phenotype genotype; indian patients ... See more keywords