Why the study?
Does the concurrence of a short 10q26 fragment modify the phenotype in patients with FSHD1 carrying a short 4q35 fragment?
Population
177 patients from 77 families with facioscapulohumeral muscular dystrophy (FSHD1)
Comparison
Presence of one short 4q35 and one short 10q26… vs Presence of a single short 4q35 fragment
Design
Cohort
Authors
Loading...
Short 10q26 fragments do not modify FSHD1 phenotype; leaves open identification of other modifiers in this cohort.
Does the concurrence of a short 10q26 fragment modify the phenotype in patients with FSHD1 carrying a short 4q35 fragment?
The presence of a shortened 10q26 fragment does not modify the clinical phenotype of facioscapulohumeral muscular dystrophy (FSHD1) caused by shortened 4q35 fragments.
Köhler et al. (1999) studied this question.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: