Miopatía de depósito de nemalina y artrogriposis congénita / Nemaline myopathy and congenital arthrogryposis
Clín. investig. ginecol. obstet. (Ed. impr.)
; 44(4): 181-184, oct.-dic. 2017. ilus
Article
in Spanish
| IBECS
| ID: ibc-167995
Responsible library:
ES1.1
Localization: BNCS
RESUMEN
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
ABSTRACT
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
Full text:
Available
Collection:
National databases
/
Spain
Database:
IBECS
Main subject:
Arthrogryposis
/
Muscular Atrophy, Spinal
/
Myopathies, Nemaline
/
Amniocentesis
Limits:
Adult
/
Female
/
Humans
/
Pregnancy
Language:
Spanish
Journal:
Clín. investig. ginecol. obstet. (Ed. impr.)
Year:
2017
Document type:
Article
Institution/Affiliation country:
Hospital Juan Ramón Jiménez/España