Article
Two novel nebulin variants in an adult patient with congenital nemaline myopathy.
Neuromuscular disorders : NMD - 1 May 2015
Güttsches Anne K, Dekomien Gabriele, Claeys Kristl G, von der Hagen Maja, Huebner Angela, Kley Rudolf A, Kirschner Janbernd, Vorgerd Matthias
Abstract excerpt
Congenital myopathies are clinically and genetically heterogeneous disorders, which often remain genetically undiagnosed for many years. Here we present a 40-year old patient with an almost lifelong history of a congenital myopathy of unknown cause. Muscle biopsy in childhood revealed mild myopathic features and rods. Clinical examination on presentation at the age of 40 revealed a facial weakness, atrophy and...
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