ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structure

Volume: 9, Issue: 1
Published: Aug 8, 2019
Abstract
LGMD2L is a subtype of limb-girdle muscular dystrophy (LGMD), caused by recessive mutations in ANO5 , encoding anoctamin-5 (ANO5). We present the analysis of five patients with skeletal muscle weakness for whom heterozygous mutations within ANO5 were identified by whole exome sequencing (WES). Patients varied in the age of the disease onset (from 22 to 38 years) and severity of the morphological and clinical phenotypes. Out of the nine detected...
Paper Details
Title
ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structure
Published Date
Aug 8, 2019
Volume
9
Issue
1
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