Table 1 Patient and control muscle biopsy samples used

6

Male

MYMK/TMEM8C) [c.235T > C; p.(Trp79Arg), and c.271 C > A; p.(Pro91Thr)],

Congenital myopathy

18

Female

MYMK/TMEM8C) [c.235T > C; p.(Trp79Arg), and c.271 C > A; p.(Pro91Thr)],

Congenital myopathy

25

Female

-

-

37

Male

-

-

21

Female

-

-

24

Female

-

-

35

Female

-

-

42

Male

-

-

27

Male

-

-