Key Takeaway
This case illustrates a severe congenital FKRP presentation; it does not describe the expected course of later-onset LGMDR9.
Evidence Summary
Eye and brain abnormalities in congenital muscular dystrophies caused by fukutin-related protein gene (FKRP) mutations
A congenital FKRP case report describing severe eye and brain involvement alongside a comparison with published cases.
case reportCongenital DiseaseDiagnosisFamilies
Citation: Kava M, Chitayat D, Blaser S, et al. Eye and brain abnormalities in congenital muscular dystrophies caused by fukutin-related protein gene (FKRP) mutations. Pediatr Neurol. 2013;49(5):374-378.
Main findings
- The report describes a 16-month-old boy with a Walker-Warburg syndrome phenotype linked to a novel FKRP mutation.
- The authors compared eye and brain findings with previously reported FKRP cases with eye involvement.
- Their literature discussion describes severe eye involvement as uncommon among published FKRP cases, not as a measured population rate.
Practical relevance
- Helps explain why FKRP education distinguishes congenital disease from limb-girdle presentations.
Limitations and cautions
- A single case and selected published reports cannot estimate how frequently these abnormalities occur.
- The report does not establish monitoring recommendations for later-onset LGMDR9.
Primary Sources
Direct links for verification
Primary indexed record for the paper summary on this page.
Publisher DOI landing page.
Related Content
Related routes inside the site
Paper Summary
Illness-associated muscle weakness in dystroglycanopathies
Natural-history and survey study describing acute, transient weakness around febrile illness across several dystroglycanopathy genes.
Paper Summary
Myoglobinuria and muscle pain are common in patients with limb-girdle muscular dystrophy 2I
Retrospective report of self-reported myoglobinuria and muscle pain in a 26-person FKRP-related LGMD2I cohort.
Paper Summary
The phenotype of limb-girdle muscular dystrophy type 2I
An early FKRP cohort describing respiratory and cardiac involvement. A July 2003 correction is recorded, but its contents remain unverified here.