Associated Papers
Clinical, pathological, imaging, and genetic characterization in a Taiwanese cohort with limb-girdle muscular dystrophy.
Liang WC et al.
Orphanet Journal of Rare Diseases, 2020
Value of muscle magnetic resonance imaging in the differential diagnosis of muscular dystrophies related to the dystrophin-glycoprotein complex.
Xie Z et al.
Orphanet Journal of Rare Diseases, 2019
31747956 (PubMed )
Supplement: 13023_2019_1242_MOESM2_ESM.docx
Magnetic Resonance Imaging Findings in the Muscle Tissue of Patients with Limb Girdle Muscular Dystrophy Type 2I Harboring the Founder Mutation c.545A>G in the FKRP Gene.
Xie Z et al.
Biomed Research International, 2018
Muscle protein alterations in LGMD2I patients with different mutations in the Fukutin-related protein gene.
Yamamoto LU et al.
The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society, 2008
Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum.
de Paula F et al.
European Journal of Human Genetics : Ejhg, 2003
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