Table 1 Patient and control muscle biopsy samples used

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