Fig. 1.

Pedigrees for families in which mutations were identified from next generation sequencing of a proband. Pedigrees and segregation of the mutation/s identified within each family is shown for pedigrees not previously described elsewhere. Probands denoted by arrowheads. (a) Family 16 and (b) Family 20 with homozygous KLHL40 mutations; (c) Family 14: X-linked MTM1 mutation; (d) Family 6, (e) Family 8 and (f) Family 13 with compound heterozygous mutations of RYR1; (g) Family 9: homozygous NEB mutation; (h) Family 10: compound heterozygous mutation of CHRND; i Family 15: homozygous mutation of CHRNG; (j) Family 1: de novo mutation of MYH3; (k) Family 11: dominantly-inherited mutation of MYH3. Pedigrees for Family 2²³, 3-4²⁴, 5²², 7⁵⁷, 12²⁰ and 38³⁰ are published previously