Reference Public rare-disease knowledge base

Phase 3 Evidence Library

Paper Library

Curated FKRP paper summaries with structured findings, plain-language practical relevance, and explicit limitations.

6 records

2023 · Neuromuscular Disorders

Epidemiology and natural history in 101 subjects with FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020)

Large modern natural-history cohort describing prevalence, genotype distribution, ventilatory support patterns, wheelchair use, and sex-associated differences in Norwegian LGMDR9.

cohort Natural HistoryRespiratory Families

Takeaway: This is one of the strongest natural-history anchors for public FKRP content because it links prevalence and genotype data to concrete respiratory, cardiac, and ambulation outcomes.

2021 · Trends in Cell Biology

Fukutin-Related Protein: From Pathology to Treatments

Review article mapping FKRP biology, disease mechanisms, model systems, and the treatment approaches that were emerging by 2021.

review Therapy DevelopmentGenetics General

Takeaway: This review is the quickest source for understanding how FKRP biology connects to therapeutic directions such as small molecules, gene therapy, and cell therapy.

2013 · Pediatric Neurology

Eye and brain abnormalities in congenital muscular dystrophies caused by fukutin-related protein gene (FKRP) mutations

Pediatric case-based paper describing severe congenital FKRP disease with eye and brain involvement and comparing that presentation with previously reported FKRP cases.

case report Congenital DiseaseDiagnosis Families

Takeaway: FKRP-related disease can extend well beyond later-onset limb-girdle presentations, and rare severe congenital cases may include major eye and brain abnormalities.

2007 · BMC Musculoskeletal Disorders

LGMD2I in a North American population

Genotype-phenotype paper showing that FKRP-related LGMD can be present and clinically varied in North American cohorts, not only in founder populations from Northern Europe.

cohort GeneticsDiagnosis Clinicians

Takeaway: The paper supports testing FKRP early in appropriate LGMD workups because clinically mild and more severe courses can exist in the same broad diagnostic space.

2006 · Journal of Neurology

Cardiac involvement in limb-girdle muscular dystrophy 2I : conventional cardiac diagnostic and cardiovascular magnetic resonance

Cardiac-focused FKRP paper showing that cardiovascular magnetic resonance can detect subclinical or mild cardiac disease beyond what routine testing alone may capture.

cohort CardiacMonitoring Clinicians

Takeaway: Cardiac disease can be present even in oligosymptomatic FKRP cases, and CMR may reveal abnormalities missed by more routine evaluation alone.

2003 · Neurology

The phenotype of limb-girdle muscular dystrophy type 2I

Foundational phenotype paper demonstrating that cardiopulmonary complications can be prominent in FKRP-related LGMD even when skeletal muscle weakness appears comparatively limited.

cohort RespiratoryPhenotype Families

Takeaway: Respiratory and cardiac failure can be clinically important in FKRP-related LGMD and may be more severe than a casual review of limb weakness alone would suggest.