Associated Papers
Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients.
Unnikrishnan G et al.
Journal of Neuromuscular Diseases, 2023
Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients.
Song D et al.
Clinical Genetics, 2021
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
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
31165590 (PubMed )
Supplement: MGG3-7-e00748-s004.xlsx › Variants_information
The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients.
Wang L et al.
Orphanet Journal of Rare Diseases, 2018
Limb-girdle muscular dystrophy type 2I: two Chinese families and a review in Asian patients.
Wang DN et al.
The International Journal of Neuroscience, 2018
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
FKRP mutations, including a founder mutation, cause phenotype variability in Chinese patients with dystroglycanopathies.
Fu X et al.
Journal of Human Genetics, 2016
Limb-girdle muscular dystrophy type 2I is not rare in Taiwan.
Liang WC et al.
Neuromuscular Disorders : Nmd, 2013
Asian patients with limb girdle muscular dystrophy 2I (LGMD2I).
Hong D et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2011
A novel FKRP gene mutation in a Taiwanese patient with limb-girdle muscular dystrophy 2I.
Lin YC et al.
Brain & Development, 2007
Select a paper to view details