Patient Family Sex Age Onset Clinical features Pattern of muscle involvement Inheritance Genetic analysis Ref. 1 1 M 26 1st Painless contractures; slow relaxation during exercise Generalized   n.p. [2] 2 2 M 42 1st Exercise-induced muscle stiffness; pain of exercised muscles; slow relaxation during exercise; muscle cramps; no grip or percussion myotonia Generalized AR Homozygous p.Pro147Arg fsX33 No SLN mutation [1,10,33] 3 M 42 1st Exercise-induced muscle stiffness; slow relaxation during exercise; muscle cramps; Generalized AR Homozygous p.Pro147Arg fsX33 [1] 4 3 M 26 1st Exercise-induced muscle stiffness; slow relaxation during exercise; no percussion myotonia Generalized AR Homozygous p.Cys675X [1,3] 5 M 36 n.a. n.a. n.a. AR Homozygous p.Cys675X [1,3] 6 4 F 28 2nd Exercise-induced muscle stiffness; slow relaxation during exercise; muscle cramps; mild weakness of facial and proximal limb muscles Generalized AD n.p. [6] 7 F 30 1st Exercise-induced muscle stiffness; slow relaxation during exercise; muscle cramps; mild weakness of facial and proximal limb muscles; no percussion myotonia Generalized AD n.p. 8 M 19 1st Exercise-induced muscle stiffness; slow relaxation during exercise; no percussion myotonia Generalized AD n.p. 9 F 54 n.a. Slow relaxation during exercise; mild proximal limb weakness; no percussion myotonia Partial AD n.p. 10 5 M 37 3rd Exercise-induced muscle pain and stiffness; muscle cramps; improvement in hot weather; worsening in cold; well-developed muscles Generalized   n.p. [5] 11 F 46 3rd Exercise-induced muscle pain and stiffness; worsening in cold Generalized   n.p. 12 6 M 38 1st Exercise-induced muscle stiffness; post-exercise muscle weakness; exertional rhabdomyolysis and myalgia; muscle cramps; no grip or percussion myotonia Partial S No ATP2A1 mutation [7,9,13,32] 13 7 F 10 1st Muscle weakness and pain n.a.   No ATP2A1 mutation [13,32] 14 M 14 n.a. Muscle weakness and pain n.a.   No ATP2A1 mutation 15 8 M 15 1st Muscle stiffness, weakness and pain; impaired muscle relaxation; muscle cramps n.a. AR Homozygous p.Arg198X [3,8,32] 16 M 16 1st Muscle stiffness, weakness and pain; impaired muscle relaxation; muscle cramps n.a. AR Homozygous p.Arg198X 17 9 F 17 n.a. Muscle stiffness n.a.   No ATP2A1 mutation [13,32] 18 10 M 29 2nd Muscle stiffness, weakness and pain; impaired muscle relaxation; muscle cramps n.a. AD No ATP2A1 mutation No SLN mutation [13,32-33] 19 F 55 2nd Muscle stiffness, weakness and pain; impaired muscle relaxation; muscle cramps n.a. AD No ATP2A1 mutation [13,32] 20 11 F 29 n.a. Impaired muscle relaxation; muscle stiffness cramps and pain n.a.   No ATP2A1 mutation [13,32] 21 12 F 30 3rd Impaired muscle relaxation; muscle stiffness, weakness and pain; muscle cramps Generalized S No ATP2A1 mutation [13,32] 22 13 M 60 2nd Painless exercise-induced muscle cramps Generalized   No ATP2A1 mutation No SLN mutation [10,33] 23 14 F 45 2nd Exercise-induced muscle stiffness; difficulty in muscle relaxation; no percussion myotonia Generalized   No ATP2A1 mutation No SLN mutation [10,33] 24 15 M n.a n.a Exercise- and cold-induced muscle stiffness;muscle pain and cramps n.a. AD* No SLN mutation [33] 25 16 M 15 1st Exercise-induced muscle stiffness n.a. AR p.Glu55Lys fsX20 [11] 26 M 24 1st Exercise-induced muscle stiffness and cramps; delayed relaxation; no percussion myotonia Generalized AR p.Glu55Lys fsX20 27 17 F 26 1st Exercise-induced muscle stiffness; difficulty in muscle relaxation; mild proximal weakness; no percussion myotonia Generalized AR Compound heterozygous: p.Glu34X and p.Tyr389X 28 18 M   1st Exercise-induced muscle stiffness Generalized AR Homozygous p.Pro789Leu 29 M 40 1st Exercise-induced muscle stiffness Generalized AR Homozygous p.Pro789Leu 30 19 M 38 2nd Exercise-induced muscle stiffness and cramps; no grip or percussion myotonia Generalized AR Non causal mutation p.Arg819Cys 31 20 M 30 1st Exercise-induced painless muscle stiffness; muscle cramps; rhabdomyolysis after anesthesiological procedure Generalized AR Compound heterozygous p.Leu67Arg and p.Leu59Ser fsX37 [12,14] 32 21 M 19 1st Exercise-induced muscle stiffness; delayed muscle relaxation Generalized AR Compound heterozygous: p.delLeu65 and delGlu606 [14,31] 33 F 47 2nd Exercise-induced muscle stiffness; delayed muscle relaxation Generalized AR Compound heterozygous: del p.delLeu65 and p.delGlu606 [31] 34 22 F 30 2nd Exercise-induced muscle stiffness; muscle cramps; myalgia Generalized S Non causal mutation p.Pro603Pro [13] 35 23 M 35 2nd Muscle cramps; myalgia Partial S No ATP2A1 mutation 36 24 M 37 4th Exercise-induced muscle stiffness; muscle cramps; myalgia Generalized S No ATP2A1 mutation 37 25 M 38 4th Exercise-induced muscle stiffness; myalgia Partial S No ATP2A1 mutation 38 26 F 42 4th Exercise-induced muscle stiffness; muscle cramps; myalgia Partial S No ATP2A1 mutation 39 27 M 48 5th Exercise-induced muscle stiffness; muscle cramps; myalgia Partial AR Non causal mutation p.Arg604His 40 F 52 5th Exercise-induced muscle stiffness; muscle cramps; myalgia Partial AR No ATP2A1 mutation 41 28 M 49 5th Exercise-induced muscle stiffness; myalgia Partial S No ATP2A1 mutation 42 29 M 55 6th Exercise-induced muscle stiffness; muscle cramps; myalgia Generalized S No ATP2A1 mutation 43 30 F 62 1st Exercise-induced muscle stiffness; muscle cramps; myalgia Partial AR No ATP2A1 mutation 44 F 64 5th Exercise-induced muscle stiffness; muscle cramps; myalgia Partial AR No ATP2A1 mutation 45 F 69 1st Exercise-induced muscle stiffness; muscle cramps; myalgia Generalized AD No ATP2A1 mutation 46 31 F 68 7th Exercise-induced muscle stiffness; muscle cramps; myalgia Generalized S No ATP2A1 mutation 47 32 M 30 1st Exercise-induced muscle stiffness; muscle cramps, no grip or percussion myotonia Generalized S No ATP2A1 mutation [14] Onset is indicated in decades; AR: Autosomal Recessive; AD: Autosomal Dominant; S: sporadic; n.p.: not performed; n.a.: not available; blank, unknown/not repoted *mother and sister of the patient said to suffer of similar symptoms, suggesting a dominant inheritance of the disease [33]

Table 1: Clinical features and genetic analysis in patients with Brody myopathy described to date.