Results 91 to 100 of about 25,797 (180)
Phospholamban overexpression in mice causes a centronuclear myopathy-like phenotype
Disease Models & Mechanisms, 2015 Centronuclear myopathy (CNM) is a congenital myopathy that is histopathologically characterized by centrally located nuclei, central aggregation of oxidative activity, and type I fiber predominance and hypotrophy. Here, we obtained commercially available
Val A. Fajardo +13 more
doaj +1 more source
Centronuclear Myopathies [PDF]
Seminars in Pediatric Neurology, 2011 Romero, Norma, Bitoun, Marc
openaire +3 more sources
Severe neonatal asphyxia due to X-linked centronuclear myopathy.
, 1990 Severe neonatal centronuclear myopathy is inherited as an X-linked condition characterized by primary asphyxia, extreme muscular hypotonia and absent spontaneous movements.
Zimmermann A +7 more
core +1 more source
First person – Karla G. Espinosa and Salma Geissah
Disease Models & Mechanisms, 2022 First Person is a series of interviews with the first authors of a selection of papers published in Disease Models & Mechanisms, helping early-career researchers promote themselves alongside their papers. Karla G.
doaj +1 more source
Neurologia (Barcelona, Spain), 1993 A 19 year-old patient, second child of a non consanguinous marriage, was evaluated because of the patient progressive mental retardation and muscular weakness from infancy. Six maternal uncles non had died of unknown cause in the first year of life, and his mother had 3 spontaneous miscarriages; the two sisters of the patient were healthy.
M, Olivé +4 more
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Arquivos de Neuro-Psiquiatria, 1975 Un estudio electrofisiológico detallado fué hecho en los músculos extensor corto de los dedos, de la eminencia tenar, de la eminencia hipotenar y soleo en un paciente con el diagnóstico de miopatía miotubular o centronuclear.
Roberto E. P. Sica, Olga P. Sanz
doaj
, 1972 Centronuclear myopathy is a form of hereditary myopathy with onset during gestational life, early infancy or rarely in childhood. Most patients are born as floppy infants. Various skeletal muscles are involved in the disease process.
Ionasescu, V. +3 more
core +1 more source
Dynamin-2 reduction rescues the skeletal myopathy of a SPEG-deficient mouse model
JCI Insight, 2022 Striated preferentially expressed protein kinase (SPEG), a myosin light chain kinase, is mutated in centronuclear myopathy (CNM) and/or dilated cardiomyopathy.
Qifei Li +9 more
doaj +1 more source
Temporomandibular joint involvement in a patient with centronuclear myopathy
, 2000 We describe here the temporomandibular joint and masticatory muscle abnormalities disclosed by computed tomography and magnetic resonance imaging in a 25-year-old man with centronuclear myopathy (a congenital myopathy) who presented with marked ...
Martins, R. J. +6 more
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The coexistence of dynamin 2 mutation and multiple mitochondrial DNA (mtDNA) deletions in the background of severe cardiomyopathy and centronuclear myopathy. [PDF]
, 2015 Dynamin2 (DNM2) gene mutations may result in Charcot-Marie-Tooth disease and centronuclear myopathy. Here, we present a patient suffering from cardiomyopathy and centronuclear myopathy with repetitive discharges and mild axonal neuropathy due to DNM2 ...
Szelid Zsolt, László +8 more
core +1 more source