Roles of the nebulin and β-tropomyosin genes in nemaline myopathy

摘要: 8 INTRODUCTION 10 REVIEW OF THE LITERATURE 11 1 Skeletal muscle 1.1 Development of skeletal 1.2 Structure the sarcomere 13 1.3 Function 15 2 Sarcomeric proteins 16 2.1 The thick filament protein myosin 17 2.2 Thin 18 2.2.1 Actin 2.2.2 Nebulin and nebulette 19 2.2.3 Tropomyosins 20 2.2.4 Troponin 21 2.2.5 Tropomodulin CapZ 22 2.3 Titin 23 2.4 Z-disc 24 2.4.1 α-Actinin 2.4.2 Myopalladin 25 2.4.3 Myotilin (myofibrillar with titin-like Ig domains) 2.4.4 Desmin 26 2.4.5 Other associated 27 3 Nemaline myopathy 29 3.1 Clinical features classification 30 3.1.1 Severe congenital NM 3.1.2 Intermediate 3.1.3 Typical 31 3.1.4 Mild childhood or juvenile onset 3.1.5 Adult 3.1.6 forms 32 3.2 Histological findings 3.3 Genes underlying 34 3.3.1 γ-tropomyosin gene, TPM3 35 3.3.2 nebulin NEB 36 3.3.3 α-actin ACTA1 37 3.3.4 troponin T1 TNNT1 39