Journal: Journal of muscle research and cell motility

Article Title: Sarcomeric myopathies associated with tremor: new insights and perspectives

doi: 10.1007/s10974-019-09559-1

Figure Lengend Snippet: List of mutations in sarcomeric genes encoding thick; and thin filament associated proteins linked to myopathy with tremor

Article Snippet: In particular, mutations in the thick filament proteins myosin heavy and light chains, and slow myosin binding protein-C (sMyBP-C) ( and ), and the thin filament proteins troponin, tropomyosin and nebulin ( and ) have been shown to lead to the development of myopathy with tremor. fig ft0 fig mode=article f1 fig/graphic|fig/alternatives/graphic mode="anchored" m1 Open in a separate window Figure 1: caption a7 Schematic of thick filament associated proteins showing the location of mutations cosegregating with myopathy characterized by tremor. fig ft0 fig mode=article f1 fig/graphic|fig/alternatives/graphic mode="anchored" m1 Open in a separate window Figure 2: caption a7 Schematic depiction of thin filament associated proteins showing the location of mutations linked to myopathy accompanied by tremor. table ft1 table-wrap mode="anchored" t5 Table 1: caption a7 Mutation Organism Inheritance Number of patients with tremor Thick filament associated proteins MYH7 (Myosin Heavy Chain 7) A1440 A1441insPA Pig De novo / Inherited Not applicable L1453P Human Inherited 6 L1467V Human De novo 1 R1500P Human De novo 1 K1617del Human De novo/Inherited 5 L1706P Human De novo 1 MYH2 (Myosin Heavy Chain-IIa) E706K Human Inherited 2 MYL2 (Myosin Regulatory Light Chain 2) 403-1G>C Human Inherited 11 P144LfsX2 / D145TfsX2 Human Inherited 2 MYBPC1 (Myosin Binding Protein-C, slow skeletal) Y247H Human Inherited 4 E248K Human Inherited 4 L259P Human De novo 1 L263R Human De novo/Inherited 3 L295R Calf De novo Not applicable Thin filament associated proteins TNNT1 (Slow skeletal troponin T) S108X Human Inherited 1 E180X Human Inherited >70 L203X Human Inherited 9 NEB (Nebulin) S8042X Dog Inherited Not applicable TPM3 (Tropomyosin α-3 chain) ΔE224 Human De novo 1 Open in a separate window List of mutations in sarcomeric genes encoding thick; and thin filament associated proteins linked to myopathy with tremor Given that tremor pathogenesis has been traditionally associated with neurological defects ( Morales-Briceño et al. 2018 ), its presence in myopathic patients and spontaneous or preclinical animal models in the absence of apparent neuropathy is intriguing and perplexing.

Techniques: Binding Assay