Paper Library

Takeaway: The siblings had different cardiac phenotypes and imaging courses. A two-person family report cannot set surveillance intervals or change public cardiac guidance without specialist review.

Takeaway: Timed walking and stair measures predicted a study-defined ambulation outcome at group level, but the model is not a guaranteed timeline or a stand-alone forecast for an individual.

Takeaway: Glycosylated alpha-dystroglycan was lower than the selected control and stable over 6 to 12 months in the biopsy cohort, supporting biomarker research but not proving treatment benefit or routine clinical use.

Takeaway: Ribitol and ribose produced different muscle-metabolite profiles in FKRP-mutant mice. The study raises research questions and does not establish human safety, dosing, or clinical benefit.

Takeaway: This is a single-adult case without a control group. It establishes no pediatric dose or pediatric safety, and the paper reported no clear objective improvement in clinical or patient-reported outcome measures.

Takeaway: Respiratory support sometimes began before wheelchair dependency; mobility alone did not describe all disease burden in this cohort.

Takeaway: This 2021 review connects FKRP biology with experimental small-molecule, gene, and cell approaches; it is background reading, not a current treatment guide.

Takeaway: The study found no association between recalled middle-school activity level and selected later motor or respiratory measures, but it was not a prospective exercise-safety trial and cannot prescribe activity.

Takeaway: Acute illness-associated weakness was reported more often in the surveyed dystroglycanopathy group, especially in young children, but this mixed-gene retrospective evidence cannot define an individual emergency pathway or treatment.

Takeaway: This case illustrates a severe congenital FKRP presentation; it does not describe the expected course of later-onset LGMDR9.

Takeaway: Myoglobinuria and exertion-associated muscle pain were reported in this small cohort, but the retrospective design does not provide a triage rule, prevention protocol, or prediction for an individual.

Takeaway: Seven FKRP diagnoses among 87 people evaluated for LGMD illustrate the value of molecular confirmation when clinical presentations overlap.

Takeaway: In this small cohort, cardiac magnetic resonance detected more abnormalities than conventional testing, including in patients with little skeletal-muscle involvement.

Takeaway: The public abstract reports cardiopulmonary complications sometimes out of proportion to skeletal weakness. Check the publisher's correction before relying on detailed results.