A case report of limb-girdle muscular dystrophy caused by a novel FTKN mutation and literature review
Tian Lan
Wu Jing
Zhong Lili
Tian Tian
Abstract：Limb-girdle muscular dystrophy (LGMD) is a group of hereditary muscle diseases, characterized by heterogeneity in inheritance patterns and clinical manifestations. The prevalence is approximately 1/20,000, and it mainly presents with reduced muscle tone and weakness in the proximal limbs (hip/shoulder girdle), varying degrees of contractures, and histological changes indicative of myopathic features in skeletal muscle biopsy. Currently, about thirty genes have been identified as causative for LGMD [1-2].
Keywords：Limb-girdle muscular dystrophyFKTN geneGenetic mutation
Publication Date：2025-05-20
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：7( 374-380 )