ArticleFrontiers in genetics2024
Facioscapulohumeral muscular dystrophy type 1 combined with becker muscular dystrophy: a family case report.
Article in Frontiers in genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
2 citing papers in PubMed.
- Molecular Insights and Orthopedic Management in Muscular Dystrophies: A Comprehensive Review.International journal of molecular sciences · 2026Review
- DUCKS4: a comprehensive workflow for Nanopore sequencing analysis of facioscapulohumeral muscular dystrophy (FSHD).Human genomics · 2026Article
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Authors and funding
5 authors.
Funding
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Abstract
Facioscapulohumeral muscular dystrophy type 1 (FSHD1) and Becker muscular dystrophy (BMD) are distinct disorders caused by different genetic variations and exhibiting different inheritance patterns. The co-occurrence of both conditions within the same family is rare. In this case report, the proband was a 10 year-old boy who presented with eye and mouth orbicular muscles, shoulder and proximal upper and lower limbs weakness. Genetic testing showed that the number of D4Z4 repeat units in the sub-terminal region 4qA of chromosome 4q35 in the proband was only 4 (normal value ≥ 11) and, at the same time, a heterozygous deletion was found in exons 13-29 of
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