Article
[Early onset adhalinopathy (LGMD2D) mimicking congenital muscular dystrophy].
Revista de neurologia - 1 Jan 2000
Castro-Gago M, Novo-Rodríguez M I, Pintos-Martínez E, Gallano P, Eirís-Puñal J
Abstract excerpt
INTRODUCTION: The recent discovery of the dystrophin-associated complex of glycoproteins led to the delineation of sarcoglycanopathies, a phenotypically similar to dystrophinopathies group of clinically heterogeneous and progressive muscular dystrophies. The objective of this paper is to report the clinical, biochemical, histological, immunohistochemical and molecular genetics characteristics observed in a case...
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