Key Takeaway
The public abstract reports cardiopulmonary complications sometimes out of proportion to skeletal weakness. Check the publisher's correction before relying on detailed results.
Evidence 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.
cohortRespiratoryPhenotypeFamilies
Citation: Poppe M, Cree L, Bourke J, et al. The phenotype of limb-girdle muscular dystrophy type 2I. Neurology. 2003;60(8):1246-1251.
Main findings
- The public abstract describes 16 patients from 14 families, including 13 homozygous for c.826C>A and three compound heterozygotes.
- It reports respiratory impairment in 10 patients, nocturnal respiratory support in five, and cardiac involvement in six.
- These figures match the accessible abstract; the effect of the flagged correction on the article has not been established in this review.
Practical relevance
- Offers historical context for considering respiratory and cardiac health alongside mobility.
- Use current clinical guidance for monitoring decisions; this small study does not establish a surveillance schedule.
Limitations and cautions
- Publisher-supplied DOI metadata confirms a correction published on 8 July 2003. Its text could not be retrieved during the September 2026 check, so review remains incomplete.
- A small historical cohort cannot establish present-day population rates or individual prognosis.
Primary Sources
Direct links for verification
Primary indexed record for the paper summary on this page.
Publisher DOI landing page.
Neurology 61(1), page 150. Publisher-supplied Crossref metadata links this correction to the original paper; its text and effect on the results remain unverified here.
Related Content
Related routes inside the site
Guide
Clinical Features
FKRP-related disease can involve skeletal muscle, motor development, cardiac function, respiratory function, and in some severe congenital presentations, broader neurologic or structural findings. The pattern is variable, which is why the site treats phenotype as a spectrum.
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
Childhood Activity on Progression in Limb Girdle Muscular Dystrophy 2I
Retrospective analysis relating self-reported middle-school activity to later motor and respiratory measures in 41 people with FKRP variants.