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Table 1 Clinical and diagnostic features of patients

From: Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment

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
  1. Abbreviations: F female, M male, y years, m months, ND not determined, hom homozygous, het heterozygous