ArticleJournal of human genetics2016
FKRP mutations, including a founder mutation, cause phenotype variability in Chinese patients with dystroglycanopathies.
Article in Journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.
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Who cites it
8 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Progression to Loss of Ambulation Among Patients with Autosomal Recessive Limb-girdle Muscular Dystrophy: A Systematic Review.Journal of neuromuscular diseases · 2022Pooled it
- New genotype-phenotype correlations and transcriptomic findings in limb-girdle muscular dystrophy R9.Journal of neurology · 2025Article
- Congenital muscular dystrophies and myopathies: the leading cause of genetic muscular disorders in eleven Chinese families.BMC musculoskeletal disorders · 2025Article
- Clinical, pathological, imaging, and genetic characterization in a Taiwanese cohort with limb-girdle muscular dystrophy.Orphanet journal of rare diseases · 2020Article
- Clinical, genetic, and pathologic characterization ofNeurology. Genetics · 2019Article
- [Clinical features and FKRP mutations of congenital muscular dystrophy 1C].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2018Article
- The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients.Orphanet journal of rare diseases · 2018Article
- 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 theBioMed research international · 2018Article
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9 authors.
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Abstract
Mutations in the fukutin-related protein (FKRP) gene have been associated with dystroglycanopathies, which are common in Europe but rare in Asia. Our study aimed to retrospectively analyze and characterize the clinical, myopathological and genetic features of 12 Chinese patients with FKRP mutations. Three patients were diagnosed with congenital muscular dystrophy type 1C (MDC1C) and nine patients were diagnosed with limb girdle muscular dystrophy type 2I (LGMD2I). Three muscle biopsy specimens had dystrophic changes and reduced glycosylated α-dystroglycan staining, and two showed reduced expression of laminin α2. Two known and 13 novel mutations were identified in our single center cohort. Interestingly, the c.545A>G mutation was found in eight of the nine LGMD2I patients as a founder mutation and this founder mutation in Chinese patients differs from the one seen in European patients. Moreover, patients homozygous for the c.545A>G mutation were clinically asymptomatic, a less severe phenotype than in compound heterozygous patients with the c.545A>G mutation. The 13 novel mutations of FKRP significantly expanded the mutation spectrum of MDC1C and LGMD2I, and the different founder mutations indicate the ethnic difference in FKRP mutations.
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