Missense mutations of ACTA1 cause dominant congenital myopathy with cores.
نویسندگان
چکیده
A M Kaindl, F Rüschendorf, S Krause, H-H Goebel, K Koehler, C Becker, D Pongratz, J MüllerHöcker, P Nürnberg, G Stoltenburg-Didinger, H Lochmüller, A Huebner . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
منابع مشابه
LETTER TO JMG Missense mutations of ACTA1 cause dominant congenital myopathy with cores
A M Kaindl, F Rüschendorf, S Krause, H-H Goebel, K Koehler, C Becker, D Pongratz, J MüllerHöcker, P Nürnberg, G Stoltenburg-Didinger, H Lochmüller, A Huebner . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ....
متن کاملMuscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1).
Mutations in the skeletal muscle alpha-actin gene (ACTA1) associated with congenital myopathy with excess of thin myofilaments, nemaline myopathy and intranuclear rod myopathy were first described in 1999. At that time, only 15 different missense mutations were known in ACTA1. More than 60 mutations have now been identified. This review analyses this larger spectrum of mutations in ACTA1. It in...
متن کاملPhenotypes, genotypes, and prevalence of congenital myopathies older than 5 years in Denmark
OBJECTIVE Congenital myopathy as a nosologic entity has long been recognized, but knowledge of overall and subtype prevalence and phenotype-genotype relationship is scarce, especially in the adult population. METHODS A national cohort of 107 patients ≥5 years diagnosed with congenital myopathy were prospectively assessed clinically, histologically, and genetically. RESULTS Twenty-five patie...
متن کاملUwa Research Publication
Mutations in the skeletal muscle α-actin gene (ACTA1) cause a range of congenital myopathies characterised by muscle weakness and specific skeletal muscle structural lesions. Actin accumulations, nemaline and intranuclear bodies, fibre type disproportion, cores, caps, dystrophic features and zebra bodies have all been seen in biopsies from patients with ACTA1 disease, with patients frequently p...
متن کاملActin Nemaline Myopathy Mouse Reproduces Disease, Suggests Other Actin Disease Phenotypes and Provides Cautionary Note on Muscle Transgene Expression
Mutations in the skeletal muscle α-actin gene (ACTA1) cause congenital myopathies including nemaline myopathy, actin aggregate myopathy and rod-core disease. The majority of patients with ACTA1 mutations have severe hypotonia and do not survive beyond the age of one. A transgenic mouse model was generated expressing an autosomal dominant mutant (D286G) of ACTA1 (identified in a severe nemaline ...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 41 11 شماره
صفحات -
تاریخ انتشار 2004