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MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I

Known as: LGMD2I, Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle) Type C, 5, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5 
An autosomal recessive inherited limb-girdle muscular dystrophy caused by mutations in the gene encoding fukutin-related protein (FKRP). It is… 
National Institutes of Health

Related topics

Related topics

17 relations
Autosomal recessive inheritanceCardiomyopathy, DilatedConnective and Soft TissueContracture of tendo achilles

Broader (1)

Muscular Dystrophies, Limb-Girdle

Papers overview

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2016
2016
Analysis of the Specific Immune Response in Skeletal Muscle in LGMD2I Patients
2008
2008
Muscular magnet resonance imaging (M-MRI) in α-Dystroglykanopathies – clinical course of two juvenile patients with LGMD2I and LGMD2M
2006
2006
LGMD 2I due to the common mutation 826C>A in the FKRP gene presenting as myopathy with vacuoles and paired-helical filaments.
We report on two unrelated patients clinically presenting with late-onset progressive limb girdle weakness; cardiomyopathy was… 
2003
2003
Genetic analysis of limb girdle muscular dystrophy and Miyoshi myopathy
The autosomal recessive muscular dystrophies encompass limb girdle muscular dystrophy (LGMD) and Miyoshi myopathy (MM), which can…