Key result
A novel homozygous nonsense mutation (c.289C>T; p.Arg97*) in the SGCD gene was identified as the cause of limb-girdle muscular dystrophy type 2F in a consanguineous Pakistani family.
Population
1 11-year-old boy with LGMD2F from a consanguineous family
Design
Case report
Authors
Loading...
May inform LGMD genetic testing in consanguineous families; leaves open validation and prevalence assessment.
Case Report (n=1)
Identification of a novel homozygous nonsense mutation in the SGCD gene expands the genetic spectrum of LGMD2F and is the first reported case in a Pakistani population.
Younus et al. (2019) conducted a case report in Limb-Girdle Muscular Dystrophy Type 2F (LGMD2F) (n=1). SGCD homozygous nonsense mutation (c.289C>T; p.Arg97*) vs. Unaffected family members was evaluated on Genetic cause of LGMD2F. A novel homozygous nonsense mutation (c.289C>T; p.Arg97*) in the SGCD gene was identified as the cause of limb-girdle muscular dystrophy type 2F in a consanguineous Pakistani family.
Synapse has enriched 3 closely related papers on similar clinical questions. Consider them for comparative context: