Assessment of copy number variations in the nebulin gene and other nemaline myopathy-causing genes
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A Large Deletion Affecting TPM3, Causing Severe Nemaline Myopathy
BACKGROUND AND OBJECTIVES Nemaline myopathy may be caused by pathogenic variants in the TPM3 gene and is then called NEM1. All previously identified disease-causing variants are point mutations including missense, nonsense and splice-site variants. The aim of the study was to identify the disease-causing gene in this patient and verify the NM diagnosis. METHODS Mutation analysis methods inclu...
متن کاملneb: a zebrafish model of nemaline myopathy due to nebulin mutation
Nemaline myopathy is one of the most common and severe non-dystrophic muscle diseases of childhood. Patients typically present in infancy with hypotonia, weakness, delayed motor development, and bulbar and respiratory difficulties. Mutations in six different genes are associated with nemaline myopathy, with nebulin mutations being the most common. No treatments or disease-modifying therapies ha...
متن کاملLack of the C-terminal domain of nebulin in a patient with nemaline myopathy.
The most common autosomal recessive form of nemaline myopathy is due to mutations in the nebulin gene. Among eight patients studied, we identified one, a 14-year-old girl, with a specific pattern of diffuse rods in muscle fibers. Western blot analysis detected absence of the C-terminal domain of nebulin. Protein analysis may represent a good screening method to direct molecular studies in the c...
متن کاملTroponin activator augments muscle force in nemaline myopathy patients with nebulin mutations
BACKGROUND Nemaline myopathy-the most common non-dystrophic congenital myopathy-is caused by mutations in thin filament genes, of which the nebulin gene is the most frequently affected one. The nebulin gene codes for the giant sarcomeric protein nebulin, which plays a crucial role in skeletal muscle contractile performance. Muscle weakness is a hallmark feature of nemaline myopathy patients wit...
متن کاملRoles of the nebulin and β-tropomyosin genes in nemaline myopathy
...............................................................................................8 INTRODUCTION.......................................................................................10 REVIEW OF THE LITERATURE....................................................................11 1 Skeletal muscle.........................................................................................
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