Skip to main content

Table 1 Patient and control muscle biopsy samples used

From: rAAV-related therapy fully rescues myonuclear and myofilament function in X-linked myotubular myopathy

Age Gender Gene mutation Age of onset (severity) Source
4 years Male MTM1 c.339 T > A Infancy (severe) Sao Paulo, Brazil
18 years Female MTM1 c.1061del Infancy (symptomatic carrier) Paris, France
2 months Male MTM1 c.523A > G Birth (severe) Paris, France
25 years Female London, UK
20 years Female Sao Paulo, Brazil
16 years Male Sao Paulo, Brazil
20 years Male London, UK