Table 1 Clinical and diagnostic features of patients
Patient | Center | Sex | Current Age (y) | Age Onset | Age at biopsy (y) | Biochemistry Debranching enzyme activity (%) | AGL (NM_000642.2) Nucleotide /protein change |
|---|---|---|---|---|---|---|---|
P1 | France | M | 79 | At birth | 55 | ND | ND |
P2 | France | F | 58 | 6 y | 35 | ND | c.4456del; p.Ser1486Profs*18 (hom) |
P3 | France | M | 40 | ND | 28 | Absent (leucocytes), 0% | c.3216_3217del; p.Glu1072Aspfs*36 (hom) |
P4 | France | F | 85 | 66 y | 59 | Reduced (muscle), 30% | c.3652C>T; p.Arg1218* (hom) |
P5 | France | F | 32 | 18 y | ND | ND | c.3216_3217del; p.Glu1072Aspfs*36 (hom) |
P6 | France | F | 24 | 9 m | ND | ND | c.364_365dup; p.Pro123Tyrfs*12 (hom) |
P7 | France | M | 61 | 39 y | 40 | ND | ND |
P8 | France | M | 60 | Childhood | 33 | ND | c.4322_4323dup; p.Gly1442Lysfs*28 (hom) |
P9 | France | F | 71 | 50 | 53 | ND | ND |
P10 | France | M | 37 | Childhood | 6 | ND | ND |
P11 | France | M | 28 | ND | 22 | ND | c.3216_3217del; p.Glu1072Aspfs*36 (hom) |
P12 | Japan | F | 38 | ND | 16 | ND | c.371T>A; p.Leu124*(hom) |
P13 | Japan | M | ND | ND | ND | ND | c.1672dup; p.Thr558Asnfs*4 (hom) |
P14 | Japan | M | 33 | 11 m | 7 | ND | c.1003del; p.Ile335Leufs*14 (het) c.1222C>T; p.Arg408*(het) |
P15 | Japan | M | 44 | 14 y | 15 | Reduced (muscle), 42% | ND |
P16 | Japan | F | 32 | At birth | 3 | Severely reduced (muscle), 10% | c.3816_3817del; p.Gly1273Asnfs*18 (het), c.4027G>A; p.Glu1343Lys (het) |
P17 | Japan | M | 52 | At birth | 24 | ND | c.853C>T; p.Arg285* (hom) |
P18 | Japan | F | 63 | Infancy | 38 | Severely reduced (muscle), 1% | c.1169_1172del; p.Asn390Ilefs*26 (hom) |
P19 | Japan | M | 35 | 23 y | 23 | Severely reduced (muscle), 15% | Negative |
P20 | Japan | M | 64 | 50 y | 53 | Severely reduced (muscle), 6% | c.118C>T; p.Gln40*(hom) |
P21 | Japan | M | 63 | 1 y | 56 | Severely reduced (muscle), 5% | c.2813-2A>C; p.? (hom) |
P22 | Japan | M | 64 | 42 y | 58 | ND | c.1022A>G; p.Tyr341Cys (hom) |
P23 | Japan | M | 52 | 6 y | 48 | Reduced (muscle), 25% | c.1672dup; p.Thr558Asnfs*4 (hom) |
P24 | Japan | F | 49 | 6 y | 46 | Severely reduced (muscle), 2% | c.1735+1G>T; p.? (hom) |
P25 | Denmark | F | 47 | At birth | 46 | ND | ND |
P26 | Denmark | M | 26 | 4 y | 24 | Absent (muscle), 0% | ND |
P27 | Denmark | M | 31 | First months | 30 | ND | c.3179C>A; p.Ser1060* (het), p.Met766fs (het) |
P28 | Germany | F | 59 | 10 y | 49 | ND | c.3980G>A; p.Trp1327* (hom) |
P29 | Sweden | M | 71 | 25 y | 50 | ND | c.3613C>T; p.Gln1205* (hom) |
P30 | Spain | M | 53 | 48 y | 49 | ND | ND |