ArticleBMJ neurology open2025
Clinical and genetic analysis of a family with myopathy caused by an FHL1 gene variant.
Article in BMJ neurology open, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Variants in the Methods: Clinical data were collected from two symptomatic family members. The proband underwent a muscle biopsy. Genetic analysis was performed using whole-exome sequencing and Sanger sequencing of peripheral blood DNA. Bioinformatic tools were employed to predict the pathogenicity of the variant and its impact on protein structure and stability. Wild-type and mutant Results: Affected family members exhibited progressive lower limb weakness and muscle atrophy. Muscle biopsy revealed mild myopathic changes without reducing bodies. A heterozygous Conclusion: The
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