Topic Hub
Phenotype
Use this hub when the core question is how FKRP-related disease presents, varies, and is framed across the reference library.
Guides
Start with the site-level reference pages that define this topic.
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.
Guide
What Is FKRP?
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.
Guide
For Clinicians
This page is a clinician-facing orientation route through the FKRP site. It is designed to support rapid review by focusing on the disease spectrum, monitoring domains, and source-linked follow-up pages rather than broad generic neuromuscular background.
Papers
Use the paper summaries for dated evidence and limitations.
Paper Summary
Discordant Cardiomyopathy Phenotypes in Siblings With Homozygous FKRP c.1100T>C
Two-sibling case report describing different cardiac courses despite the same homozygous FKRP variant.
Paper Summary
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.
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.
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
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.
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
LGMD2I in a North American population
A genetic screening study identifying FKRP-related LGMD in two North American referral cohorts.
Paper Summary
Cardiac involvement in limb-girdle muscular dystrophy 2I : conventional cardiac diagnostic and cardiovascular magnetic resonance
A small FKRP cohort comparing cardiovascular magnetic resonance with electrocardiography and echocardiography.
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.
Studies
Use the study records for current trial, registry, and cohort context.
Glossary
Use the terminology layer to anchor naming and search language.
Glossary
Alpha-dystroglycan
A cell-surface protein that needs proper glycosylation to help muscle and other tissues stay structurally stable.
Glossary
Dystroglycanopathy
A group of disorders caused by problems in alpha-dystroglycan glycosylation, including diseases linked to FKRP.
Glossary
Genotype-phenotype correlation
The relationship between a genetic variant pattern and the clinical features seen in a person or group.