Clinical Characteristics of Subjects With PTRF Mutations (CGL4), Mutation-Negative Patients, and a CGL Patient With no DNA Available
| Patient ID Age/Gender . | Mutations . | Clinical Features, Metabolic Abnormalities, and End-Organ Complications . | Current Treatment . |
|---|---|---|---|
| 18.1 | c.481_482insGTGA (p.K161Sfs*51) | Myopathy, percussion-induced muscle mounding, exercise-induced atrial and ventricular arrhythmias, atlantoaxial instability, scoliosis, tight heel cords, gastrointestinal dysmotility, IFG, IGTa | Propranolol, verapamil, flecainide |
| 16 y/F | c.481_482insGTGA (p.K161Sfs*51) | ||
| 19.1 | c.259C>T (p.Gln87a) | Myopathy, percussion-induced muscle mounding, exercise-induced atrial and ventricular arrhythmias, atlantoaxial instability, scoliosis, gastrointestinal dysmotility, IFG | Propranolol |
| 13 y/F | c.259C>T (p.Gln87a) | ||
| 20.1 12 y/M | Negative | Pseudoacromegaly, acanthosis nigricans, mild mental retardation, elevated HOMA score, elevated liver enzymes, proteinuria, recurrent acute pancreatitis | MNT only |
| 21.1 24 y/F | Negative | Acanthosis nigricans, PCO, retroverted uterus, diabetes, elevated liver enzymes | Metformin |
| 21.2 22 y/F | Negative | Acanthosis nigricans, PCO, elevated HOMA score | Metformin |
| 22.1 29 y/F | No DNA available | Diabetes, elevated liver enzymes, retinopathy, microalbuminuria | Metformin, insulin (72 U/day), fenofibrate, ramipril |
| Patient ID Age/Gender . | Mutations . | Clinical Features, Metabolic Abnormalities, and End-Organ Complications . | Current Treatment . |
|---|---|---|---|
| 18.1 | c.481_482insGTGA (p.K161Sfs*51) | Myopathy, percussion-induced muscle mounding, exercise-induced atrial and ventricular arrhythmias, atlantoaxial instability, scoliosis, tight heel cords, gastrointestinal dysmotility, IFG, IGTa | Propranolol, verapamil, flecainide |
| 16 y/F | c.481_482insGTGA (p.K161Sfs*51) | ||
| 19.1 | c.259C>T (p.Gln87a) | Myopathy, percussion-induced muscle mounding, exercise-induced atrial and ventricular arrhythmias, atlantoaxial instability, scoliosis, gastrointestinal dysmotility, IFG | Propranolol |
| 13 y/F | c.259C>T (p.Gln87a) | ||
| 20.1 12 y/M | Negative | Pseudoacromegaly, acanthosis nigricans, mild mental retardation, elevated HOMA score, elevated liver enzymes, proteinuria, recurrent acute pancreatitis | MNT only |
| 21.1 24 y/F | Negative | Acanthosis nigricans, PCO, retroverted uterus, diabetes, elevated liver enzymes | Metformin |
| 21.2 22 y/F | Negative | Acanthosis nigricans, PCO, elevated HOMA score | Metformin |
| 22.1 29 y/F | No DNA available | Diabetes, elevated liver enzymes, retinopathy, microalbuminuria | Metformin, insulin (72 U/day), fenofibrate, ramipril |
Abbreviations: F, female; M, male; MNT, medical nutrition therapy; PCO, polycystic ovaries.
Patients without hepatic steatosis.
Clinical Characteristics of Subjects With PTRF Mutations (CGL4), Mutation-Negative Patients, and a CGL Patient With no DNA Available
| Patient ID Age/Gender . | Mutations . | Clinical Features, Metabolic Abnormalities, and End-Organ Complications . | Current Treatment . |
|---|---|---|---|
| 18.1 | c.481_482insGTGA (p.K161Sfs*51) | Myopathy, percussion-induced muscle mounding, exercise-induced atrial and ventricular arrhythmias, atlantoaxial instability, scoliosis, tight heel cords, gastrointestinal dysmotility, IFG, IGTa | Propranolol, verapamil, flecainide |
| 16 y/F | c.481_482insGTGA (p.K161Sfs*51) | ||
| 19.1 | c.259C>T (p.Gln87a) | Myopathy, percussion-induced muscle mounding, exercise-induced atrial and ventricular arrhythmias, atlantoaxial instability, scoliosis, gastrointestinal dysmotility, IFG | Propranolol |
| 13 y/F | c.259C>T (p.Gln87a) | ||
| 20.1 12 y/M | Negative | Pseudoacromegaly, acanthosis nigricans, mild mental retardation, elevated HOMA score, elevated liver enzymes, proteinuria, recurrent acute pancreatitis | MNT only |
| 21.1 24 y/F | Negative | Acanthosis nigricans, PCO, retroverted uterus, diabetes, elevated liver enzymes | Metformin |
| 21.2 22 y/F | Negative | Acanthosis nigricans, PCO, elevated HOMA score | Metformin |
| 22.1 29 y/F | No DNA available | Diabetes, elevated liver enzymes, retinopathy, microalbuminuria | Metformin, insulin (72 U/day), fenofibrate, ramipril |
| Patient ID Age/Gender . | Mutations . | Clinical Features, Metabolic Abnormalities, and End-Organ Complications . | Current Treatment . |
|---|---|---|---|
| 18.1 | c.481_482insGTGA (p.K161Sfs*51) | Myopathy, percussion-induced muscle mounding, exercise-induced atrial and ventricular arrhythmias, atlantoaxial instability, scoliosis, tight heel cords, gastrointestinal dysmotility, IFG, IGTa | Propranolol, verapamil, flecainide |
| 16 y/F | c.481_482insGTGA (p.K161Sfs*51) | ||
| 19.1 | c.259C>T (p.Gln87a) | Myopathy, percussion-induced muscle mounding, exercise-induced atrial and ventricular arrhythmias, atlantoaxial instability, scoliosis, gastrointestinal dysmotility, IFG | Propranolol |
| 13 y/F | c.259C>T (p.Gln87a) | ||
| 20.1 12 y/M | Negative | Pseudoacromegaly, acanthosis nigricans, mild mental retardation, elevated HOMA score, elevated liver enzymes, proteinuria, recurrent acute pancreatitis | MNT only |
| 21.1 24 y/F | Negative | Acanthosis nigricans, PCO, retroverted uterus, diabetes, elevated liver enzymes | Metformin |
| 21.2 22 y/F | Negative | Acanthosis nigricans, PCO, elevated HOMA score | Metformin |
| 22.1 29 y/F | No DNA available | Diabetes, elevated liver enzymes, retinopathy, microalbuminuria | Metformin, insulin (72 U/day), fenofibrate, ramipril |
Abbreviations: F, female; M, male; MNT, medical nutrition therapy; PCO, polycystic ovaries.
Patients without hepatic steatosis.
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