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Article Abstract
Mutations in the FHL1 gene can be associated with a variety of X-linked myopathies and cardiomyopathies, among which X-linked dominant scapuloperoneal myopathy is a rare phenotype. We collected the clinical data of two unrelated Chinese patients with X-linked scapuloperoneal myopathy and analyzed their clinical, pathological, muscle imaging, and genetic features. Both patients were characterized by scapular winging, bilateral Achilles tendon contractures, and weakness in shoulder-girdle and peroneal muscles. Muscle biopsy revealed myopathic changes, and no reducing bodies were found. Muscle magnetic resonance imaging was dominated by fatty infiltration, with minor edema-like findings. Genetic analysis revealed two novel mutations in the FHL1 gene: c.380T > C (p.F127S) and c.802C > T (p.Q268*), which were located in the LIM2 domain and the C-terminal sequence, respectively. To our knowledge, this is the first report of X-linked scapuloperoneal myopathy in the Chinese population. Our findings broadened the genetic and ethnic spectrum of FHL1-related disorders and proposed to look for variants in the FHL1 gene when scapuloperoneal myopathy is observed in the clinical work.
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Article Synopsis
- Mutations in the FHL1 gene are linked to various X-linked muscle and heart disorders, including a rare condition called X-linked dominant scapuloperoneal myopathy.
- Two unrelated Chinese patients exhibited symptoms like scapular winging and weakness in specific muscle groups, with muscle biopsies showing myopathic changes and imaging revealing fatty infiltration.
- The study identified two new mutations in the FHL1 gene, marking the first report of this condition in the Chinese population, and suggests checking for FHL1 variants in patients with scapuloperoneal myopathy.