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Clín. investig. ginecol. obstet. (Ed. impr.) ; 44(4): 181-184, oct.-dic. 2017. ilus
Article in Spanish | IBECS | ID: ibc-167995

ABSTRACT

La artrogriposis es un síndrome complejo, que responde etiológicamente a numerosas causas congénitas y adquiridas. Presentamos un caso familiar de artrogriposis. La necropsia aportó el hallazgo de inclusiones rojo-púrpura en el sarcoplasma del tejido muscular, sugestiva de miopatía por nemalinas


Arthrogryposis is a complex syndrome, the aetiology of which can be traced to numerous congenital and acquired causes. We present a case of familiar arthrogryposis. Necropsy revealed red-purple rod-like structures in the sarcoplasm of the muscle tissue, suggestive of nemaline myopathy


Subject(s)
Humans , Female , Pregnancy , Adult , Myopathies, Nemaline/complications , Myopathies, Nemaline/diagnostic imaging , Arthrogryposis/etiology , Arthrogryposis/genetics , Amniocentesis/methods , Muscular Atrophy, Spinal/diagnostic imaging , Muscles/diagnostic imaging , Muscles/pathology , Muscular Atrophy, Spinal/complications , Gaucher Disease/complications , Glycogen Storage Disease Type II/complications , Mucopolysaccharidosis VII/complications , Mucopolysaccharidosis VII/diagnostic imaging
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