Buscar
Mostrando ítems 1-5 de 5
Congenital fiber-type disproportion myopathy: a case study
(UANL. Facultad de Medicina, 2015)
A Novel SPEG mutation causing congenital myopathy with fiber size disproportion and dilated cardiomyopathy with heart transplantation
(Universidade Federal de Minas GeraisBrasilHCL - HOSPITAL DAS CLINICASMED - DEPARTAMENTO DE ANATOMIA PATOLÓGICA E MEDICINA LEGALMED - DEPARTAMENTO DE CIRURGIAMED - DEPARTAMENTO DE PEDIATRIAUFMG, 2021-11)
As miopatias congênitas são um grupo heterogêneo de condições diagnosticadas com base na apresentação clínica, histopatologia muscular e defeitos genéticos. Mutações recessivas no gene SPEG foram descritas nos últimos anos ...
Centronuclear myopathy: histopathological aspects in ten patients with chilfhood onset
(Academia Brasileira de Neurologia - ABNEURO, 1998-03-01)
Centronuclear myopathy is a rare congenital myopathy. According to the period of onset of signs and symptoms and the degree of muscular involvement three clinical forms are distinguished: severe neonatal; childhood onset; ...
Estudo de mutações no gene SEPN1 em pacientes brasileiros portadores de miopatias e distrofias musculares congênitas
(Universidade Federal de Minas GeraisUFMG, 2011-06-09)
Introduction: different kinds of myopathy are related to the selenoprotein N gene, among which: congenital muscular dystrophy with rigid spine (RSMD) multiminicore myopathy (MmD), desminopathy with Mallory body and congenital ...
Estudo genético de pacientes brasileiros com miopatias relacionadas à selenoproteína N1
(Universidade Federal de Minas GeraisUFMG, 2016-08-22)
Introduction: Different kinds of myopathy are related to the selenoprotein N1 gene, among which: congenital muscular dystrophy with rigid spine (RSMD) multiminicore myopathy (Mm), desminopathy with Mallory body and congenital ...