Related Articles

• Identification and functional characterization of a novel heterozygous splice‑site mutation in the calpain 3 gene causes rare autosomal dominant limb‑girdle muscular dystrophy
• Compound heterozygous <em>CAPN3</em> variants identified in a family with limb-girdle muscular dystrophy recessive 1
• Use of RNA‑sequencing to detect abnormal transcription of the collagen α‑2 (VI) chain gene that can lead to Bethlem myopathy
• A novel de novo variant of LAMA2 contributes to merosin deficient congenital muscular dystrophy type 1A: Case report
• A novel PNPLA6 compound heterozygous mutation identified in a Chinese patient with Boucher‑Neuhäuser syndrome