Glossary term
Alpha-dystroglycan
A cell-surface protein that needs proper glycosylation to help muscle and other tissues stay structurally stable.
GeneticsPhenotype General
Shared Taxonomy
Glossary
Plain-language and clinician-ready definitions for the main FKRP terms used across the guides, paper library, and study tracking pages.
Glossary term
Dystroglycanopathy
A group of disorders caused by problems in alpha-dystroglycan glycosylation, including diseases linked to FKRP.
GeneticsCongenital Disease General
Glossary term
Genotype-phenotype correlation
The relationship between a genetic variant pattern and the clinical features seen in a person or group.
GeneticsPhenotype Clinicians
Glossary term
LGMD2I
An older diagnostic label commonly used in the literature for FKRP-related limb-girdle muscular dystrophy.
DiagnosisGenetics General
Glossary term
LGMDR9
The current limb-girdle muscular dystrophy naming convention most often used for later-onset FKRP-related disease.
DiagnosisGenetics General
Glossary term
Nocturnal ventilatory support
Breathing support used during sleep when overnight ventilation is not strong enough without assistance.
RespiratoryMonitoring Families
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