Klinische FragestellungBarth-Syndrom, Differentialdiagnose

NGS +NGS +

• Alias: 3-Methylglutaconic aciduria, type II (TAFAZZIN)
• Alias: Barth syndrome (TAFAZZIN)
• Alias: Cardioskeletal myopathy with neutropenia + abnormal mitochondria (TAFAZZIN)
• Allelic: Arthrogryposis multiplex congenita 3, myogenic type (SYNE1)
• Allelic: Atrial septal defect 5 (ACTC1)
• Allelic: Becker muscular dystrophy (DMD)
• Allelic: Charcot-Marie-Tooth disease, type 2B1 (LMNA)
• Allelic: Duchenne muscular dystrophy (DMD)
• Allelic: Hutchinson-Gilford progeria (LMNA)
• Allelic: Laing distal myopathy (MYH7)
• Allelic: Lipodystrophy, familial partial, type 2 (LMNA)
• Allelic: Mandibuloacral dysplasia (LMNA)
• Allelic: Muscular dystrophy, congenital (LMNA)
• Allelic: Myopathy, myofibrillar, 1 (DES)
• Allelic: Myopathy, myofibrillar, 4 (LDB3)
• Allelic: Myopathy, myosin storage, AD; AR (MYH7)
• Allelic: Optic atrophy 3 with cataract (OPA3)
• Allelic: Parkinson disease 13 (HTRA2)
• Allelic: Restrictive dermopathy, lethal (LMNA)
• Allelic: Scapuloperoneal syndrome, myopathic type (MYH7)
• Allelic: Scapuloperoneal syndrome, neurogenic, Kaeser type (DES)
• Allelic: Spinocerebellar ataxia, AR 8 (SYNE1)
• Allelic: Wolff-Parkinson-White syndrome (PRKAG2)
• Allelic_ Cataract 38, AR (AGK)
• 3-methylglutaconic aciduria with deafness, encephalopathy, Leigh-like syndrome (SERAC1)
• 3-methylglutaconic aciduria, type I (AUH)
• 3-methylglutaconic aciduria, type III (OPA3)
• 3-methylglutaconic aciduria, type V (DNAJC19)
• 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement, neutropenia (CLBP)
• 3-methylglutaconic aciduria, type VIII (HTRA2)
• Allelic: Pontocerebellar hypoplasia, hypotonia, respiratory insuff. syndr., neonatal lethal (ATAD3A)
• Cardiomyopathy, dilated, 1A (LMNA)
• Cardiomyopathy, dilated, 1C, with/-out LVNC (LDB3)
• Cardiomyopathy, dilated, 1D (TNNT2)
• Cardiomyopathy, dilated, 1I (DES)
• Cardiomyopathy, dilated, 1LL (PRDM16)
• Cardiomyopathy, dilated, 1MM (MYBPC3)
• Cardiomyopathy, dilated, 1R (ACTC1)
• Cardiomyopathy, dilated, 1S (MYH7)
• Cardiomyopathy, dilated, 1Y (TPM1)
• Cardiomyopathy, dilated, 3B (DMD)
• Cardiomyopathy, familial restrictive, 3 (TNNT2)
• Cardiomyopathy, hypertrophic 6 (PRKAG2)
• Cardiomyopathy, hypertrophic, 1 (MYH7)
• Cardiomyopathy, hypertrophic, 11 (ACTC1)
• Cardiomyopathy, hypertrophic, 2 (TNNT2)
• Cardiomyopathy, hypertrophic, 24 (LDB3)
• Cardiomyopathy, hypertrophic, 3 (TPM1)
• Cardiomyopathy, hypertrophic, 4 (MYBPC3)
• Combined oxidative phosphorylation deficiency 37 (C19orf70)
• Danon disease (LAMP2)
• Dursun syndrome (G6PC)
• Emery-Dreifuss muscular dystrophy 1, XL (EMD)
• Emery-Dreifuss muscular dystrophy 2, AD (LMNA)
• Emery-Dreifuss muscular dystrophy 3, AR (LMNA)
• Emery-Dreifuss muscular dystrophy 4, AD (SYNE1)
• Friedreich ataxia (FXN)
• Friedreich ataxia with retained reflexes (FXN)
• Glycogen storage disease II (GAA)
• Glycogen storage disease of heart, lethal congenital (PRKAG2)
• Harel-Yoon syndrome (ATAD3A)
• Heart-hand syndrome, Slovenian type (LMNA)
• Left ventricular noncompaction 10 (MYBPC3)
• Left ventricular noncompaction 3 (LDB3)
• Left ventricular noncompaction 4 (ACTC1)
• Left ventricular noncompaction 5 (MYH7)
• Left ventricular noncompaction 6 (TNNT2)
• Left ventricular noncompaction 7 (MIB1)
• Left ventricular noncompaction 8 (PRDM16)
• Left ventricular noncompaction 9 (TPM1)
• Malouf syndrome (LMNA)
• Mitochondrial complex V [ATP synthase] deficiency, nuclear type 2 (TMEM70)
• Myotonic dystrophy 1 (DMPK)
• Neutropenia, cyclic (ELANE)
• Neutropenia, severe congenital 1, AD (ELANE)
• Neutropenia, severe congenital 3, AR (HAX1)
• Neutropenia, severe congenital 4, AR (G6PC)
• Sengers syndrome (AGK)