All individuals with variants in gene PTRF

10 entries on 1 page. Showing entries 1 - 10.
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AscendingIndividual ID     
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00210630 19726876.P1 PubMed: Hayashi 2009 no changes in CAV3, LMNA, AGPAT2, CAV1, PPARG, AKT2, ZMPSTE24 F - Japan - >8y - - - CGL no acanthosis nigricans, hepatosplenomegaly, reduced growth hormone secretion, distal dominant muscle weakness, muscle mounding, muscle hypertrophy, caridac arrhythmia, lordosis, contractures (ankles, shoulders, fingers), constipation; CPK 1374; no intellectual disability 1 1 Johan den Dunnen
00210631 19726876.P2 PubMed: Hayashi 2009 no changes in CAV3, LMNA, AGPAT2, BSCL2, CAV1, PPARG, AKT2, ZMPSTE24 F - Japan - >14y - - - CGL no acanthosis nigricans, fatty liver, no muscle weakness, myalgia, muscle stiffness, transient IgA deficiency, recurrent pneumonia; CPK 542-2253; no intellectual disability 1 1 Johan den Dunnen
00210632 19726876.P3 PubMed: Hayashi 2009 no changes in CAV3, LMNA, AGPAT2, BSCL2, CAV1, PPARG, AKT2, ZMPSTE24 M - Japan - >10y - - - CGL no acanthosis nigricans, no muscle weakness, nephrosis; CPK 2000; no intellectual disability 1 1 Johan den Dunnen
00210633 19726876.P4 PubMed: Hayashi 2009 no changes in CAV3, LMNA, AGPAT2, BSCL2, CAV1, PPARG, AKT2, ZMPSTE24; both parents hypertension requiring medication M - Japan - >27y - - - CGL generalized lipodystrophy, no anathosis nigricans, hepatosplenomegaly, accelerated bone age, acromegaloid features, no androgynism, generalized muscle weakness, muscle mounding, muscle hypertrophy, atrial fibrillation, scoliosis, contractures ankles, umbilical prominence, renal stones; CPK 554-1545; no intellectual disability 1 1 Johan den Dunnen
00210634 19726876.P5 PubMed: Hayashi 2009 no changes in CAV3, LMNA, AGPAT2, BSCL2, CAV1, PPARG, AKT2, ZMPSTE24 M - Japan - >24y - - - CGL generalized lipodystrophy, no anathosis nigricans, hepatosplenomegaly, accelerated bone age, acromegaloid features, no androgynism, generalized muscle weakness, muscle mounding, muscle hypertrophy, atrial fibrillation, scoliosis, contractures ankles, umbilical prominence, renal stones; CPK 554-1545; no intellectual disability 2 1 Johan den Dunnen
00210635 19726876.c PubMed: Hayashi 2009 - - - Japan - - - - - Healthy/Control - 1 2 Johan den Dunnen
00210636 19726876.c PubMed: Hayashi 2009 - - - Japan - - - - - Healthy/Control - 1 26 Johan den Dunnen
00244870 Fam18Pat1 PubMed: Akinci 2016 - F - Turkey - - - - see paper CGL myopathy, percussion-induced muscle mounding, exercise-induced atrial and ventricular arrhythmias, atlantoaxial instability, scoliosis, tight heel cords, gastrointestinal dysmotility, IFG, IGT, no hepatic steatosis 1 1 Johan den Dunnen
00244871 Fam19Pat1 PubMed: Akinci 2016 - F - Turkey - - - - see paper CGL myopathy, percussion-induced muscle mounding, exercise-induced atrial and ventricular arrhythmias, atlantoaxial instability, scoliosis, gastrointestinal dysmotility, IFG 1 1 Johan den Dunnen
00296382 - - - M - - - - - - - ? Tremor (HP:0001337); Muscle cramps (HP:0003394) 1 1 Andreas Laner
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