Exome Analysis of Two Limb-Girdle Muscular Dystrophy Families: Mutations Identified and Challenges Encountered

• Main Authors: McDonald K.K., Stajich J., Blach C., Ashley-Koch A.E., Hauser M.A.
• Other Authors: DUKE-NUS MEDICAL SCHOOL
• Published: 2019
• Subjects: creatine kinase; desmin; adolescent; article; autosomal dominant inheritance; child; clinical article; desmin gene; exome; exome sequencing; filamin C gene; gene; gene mutation; genetic variability; genotype phenotype correlation; human; intron; limb girdle muscular dystrophy; muscle weakness; mutational analysis; nonhuman; pedigree analysis; school child; sequence analysis; Adolescent; Adult; Child; Contractile Proteins; Desmin; Exome; Exons; Female; Genotype; Humans; Male; Microfilament Proteins; Middle Aged; Muscular Dystrophies, Limb-Girdle; Mutation; Pedigree; Phenotype; Sequence Analysis, DNA
• Online Access: https://scholarbank.nus.edu.sg/handle/10635/161706
• Institution: National University of Singapore

10.1371/journal.pone.0048864