Glossary
The current limb-girdle muscular dystrophy naming convention most often used for later-onset FKRP-related disease.
Meaning in FKRP
LGMDR9 is the modern label used in current limb-girdle muscular dystrophy classification for FKRP-related recessive disease. Older papers and many families may still use LGMD2I, so both labels remain important in search, education, and clinical communication.
Primary Sources
Natural-history cohort using current LGMDR9 terminology in published follow-up work.
Trial record showing current LGMDR9 terminology in active therapeutic development.
Related Content
Guide
FKRP is a gene involved in alpha-dystroglycan glycosylation. Pathogenic variants in FKRP can cause a spectrum of muscular dystrophy-dystroglycanopathies, ranging from severe congenital presentations to later-onset limb-girdle disease.
Paper Summary
Large modern natural-history cohort describing prevalence, genotype distribution, ventilatory support patterns, wheelchair use, and sex-associated differences in Norwegian LGMDR9.
Study Record
Phase 1 FKRP gene-transfer trial record for ATA-100, designed to assess safety, pharmacodynamics, and immunogenicity with long-term follow-up.
Glossary
An older diagnostic label commonly used in the literature for FKRP-related limb-girdle muscular dystrophy.
Glossary
The relationship between a genetic variant pattern and the clinical features seen in a person or group.
Glossary
A cell-surface protein that needs proper glycosylation to help muscle and other tissues stay structurally stable.