Molecular genetics & genomic medicine
A Novel De Novo MTM1 Insertion Frameshift Variant Causes X-Linked Myotubular Myopathy in a Chinese Female
Par Chen L, Bao Y et Liu G.
Contenu en anglais
Résumé
Background
MTM1-related X-linked myotubular myopathy (XLMTM) typically affects males; however, symptomatic female carriers may occur.
Methods
We evaluated a 24-year-old woman with infantile hypotonia followed by slowly progressive, asymmetric proximal weakness with facial and ocular involvement. Clinical assessment, pulmonary function testing, electromyography, lower-limb muscle MRI, and muscle biopsy were performed. Next-generation sequencing and parental segregation analysis were conducted.