Article
Genetic variability in Iranian limb-girdle muscular dystrophy type 2B patients: An evidence of a founder effect.
Molecular genetics & genomic medicine - 1 Dec 2019
Mojbafan Marzieh, Tina Shirzadeh, Zafarghandi Motlagh Fatemeh, Surguchov Andrei, Nilipour Yalda, Zeinali Sirous
Abstract excerpt
BACKGROUND: Dysferlinopathies are a group of autosomal recessive limb-girdle muscular dystrophies (LGMDs) caused by mutations in DYSF (#603,009). This gene encodes a transmembrane protein called dysferlin. Since there are few reports on Iranian dysferlinopathy patients, we tried to identify the DYSF mutations in affected individuals of Iran. METHODS: Eight unrelated Iranian families have been selected for this...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.