Novel duplication mutation of the DYSF gene in a Pakistani family with Miyoshi Myopathy.

ABSTRACT: OBJECTIVES:To identify the underlying gene mutation in a large consanguineous Pakistani family.  Methods: This is an observational descriptive study carried out at the Department of Biochemistry, Shifa International Hospital, Quaid-i-Azam University, and Atta-ur-Rahman School of Applied Biosciences, National University of Sciences and Technology, Islamabad, Pakistan from 2013-2016. Genomic DNA of all recruited family members was extracted and the Trusight one sequencing panel was used to assess genes associated with a neuro-muscular phenotype. Comparative modeling of mutated and wild-type protein was carried out by PyMOL tool.  Results: Clinical investigations of an affected individual showed typical features of Miyoshi myopathy (MM) like elevated serum creatine kinase (CK) levels, distal

SUBMITTER: Ullah MI 

PROVIDER: S-EPMC5787628 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature