Klinische FragestellungMyopathie, nemaline; Differentialdiagnose

NGS +

https://register.awmf.org/de/leitlinien/detail/030-115

[DOI: doi.org/10.1016/j.nmd.2021.07.012]

• Alias: Nemaline myopathy
• Alias: Nemaline rod myopathy
• Allelic: Arrhythmogenic right ventricular dysplasia, familial (FLNC)
• Allelic: Arthrogryposis, distal, type 1A (TPM2)
• Allelic: Arthrogryposis, distal, type 2B4 (TPM2)
• Allelic: Cardiomyopathy, dilated, 1KK (MYPN)
• Allelic: Cardiomyopathy, familial hypertrophic, 26 (FLNC)
• Allelic: Cardiomyopathy, familial restrictive 5 (FLNC)
• Allelic: Cardiomyopathy, familial restrictive, 4 (MYPN)
• Allelic: Cardiomyopathy, hypertrophic, 22 (MYPN)
• Allelic: Charcot-Marie-Tooth disease, DI G (NEFL)
• Allelic: Charcot-Marie-Tooth disease, type 1F (NEFL)
• Allelic: Charcot-Marie-Tooth disease, type 2E (NEFL)
• Allelic: Malignant hyperthermia susceptibility 1 (RYR1)
• Allelic: Myopathy, scapulohumeroperoneal (ACTA1)
• CAP myopathy 1 (TPM3)
• CAP myopathy 2 (TPM2)
• Congenital myopathy 1A, AD, with susceptibility to malignant hyperthermia (RYR1)
• Congenital myopathy 1B, AR (RYR1)
• Congenital myopathy 20 (RYR3)
• King-Denborough syndrome (RYR1)
• Klippel-Feil syndrome 4, AR, with myopathy + facial dysmorphism (MYO18B)
• Myopathy, actin, congenital, with cores (ACTA1)
• Myopathy, actin, congenital, with excess of thin myofilaments (ACTA1)
• Myopathy, congenital, with fiber-type disproportion (TPM3)
• Myopathy, congenital, with fiber-type disproportion 1 (ACTA1)
• Myopathy, distal, 4 (FLNC)
• Myopathy, myofibrillar, 5 (FLNC)
• Nemaline myopathy 1, AD or AR (TPM3)
• Nemaline myopathy 10 (LMOD3)
• Nemaline myopathy 11, AR (MYPN)
• Nemaline myopathy 2, AR (NEB)
• Nemaline myopathy 3, AD or AR (ACTA1)
• Nemaline myopathy 4, AD (TPM2)
• Nemaline myopathy 5, Amish type (TNNT1)
• Nemaline myopathy 6, AD (KBTBD13)
• Nemaline myopathy 7, AR (CFL2)
• Nemaline myopathy 8, AR (KLHL40)
• Nemaline myopathy 9 (KLHL41)
• Nemaline myopathy [Lit.] (RYR1, RYR3)
• Nemaline myopathy [panelapp] (NEFL)