Results 31 to 40 of about 25,797 (180)
CONGENITAL MYOPATHIES – CENTRONUCLEAR MYOPATHIES [PDF]
Neuromuscular Disorders, 2021 S. Buono +8 more
+14 more sources
Clinical Characteristics and Neurologic Outcomes of X-Linked Myotubular Myopathy [PDF]
Annals of Child Neurology, 2022 Purpose X-linked myotubular myopathy (XLMTM) is a rare condition of centronuclear myopathy caused by myotubularin 1 (MTM1) mutations. Patients with XLMTM show different neurodevelopmental outcomes after the neonatal period depending on age and acquired ...
Hyewon Woo +10 more
doaj +1 more source
A Systematic Review and Meta-Analysis of the Prevalence of Congenital Myopathy
Frontiers in Neurology, 2021 Background: Congenital myopathy constitutes a heterogeneous group of orphan diseases that are mainly classified on the basis of muscle biopsy findings. This study aims to estimate the prevalence of congenital myopathy through a systematic review and meta-
Kun Huang +3 more
doaj +1 more source
Myotonia in centronuclear myopathy [PDF]
Journal of Neurology, Neurosurgery & Psychiatry, 1978 Centronuclear myopathy, which is unusual because of clinical myotonia, is described in two sisters. The diagnosis was established in adult life, but the first symptoms were noticed in infancy. The outstanding points of the clinical picture were mild amyotrophy, paresis, and clinical myotonia.
A, Gil-Peralta +3 more
openaire +2 more sources
Pathogenic Mechanisms in Centronuclear Myopathies [PDF]
Frontiers in Aging Neuroscience, 2014 Centronuclear myopathies (CNMs) are a genetically heterogeneous group of inherited neuromuscular disorders characterized by clinical features of a congenital myopathy and abundant central nuclei as the most prominent histopathological feature. The most common forms of congenital myopathies with central nuclei have been attributed to X-linked recessive ...
Jungbluth, Heinz, Gautel, Mathias
openaire +4 more sources
Defective membrane remodeling in neuromuscular diseases: insights from animal models. [PDF]
PLoS Genetics, 2012 Proteins involved in membrane remodeling play an essential role in a plethora of cell functions including endocytosis and intracellular transport. Defects in several of them lead to human diseases.
Belinda S Cowling +3 more
doaj +1 more source
Not young but still immature: a HIF-1α–mediated maturation checkpoint in regenerating muscle
The Journal of Clinical Investigation, 2022 Muscle fibers express particular isoforms of contractile proteins, depending on the fiber’s function and the organism’s developmental stage. In the adult, after a muscle injury, newly generated fibers transition through embryonic and neonatal myosins ...
Rahagir Salekeen, Michael Kyba
doaj +1 more source
Mutations in dynamin 2 cause dominant centronuclear myopathy
Autosomal dominant centronuclear myopathy is a rare congenital myopathy characterized by delayed motor milestones and muscular weakness. In 11 families affected by centronuclear myopathy, we identified recurrent and de novo missense mutations in the gene
Ferrer X +13 more
core +5 more sources
Journal of Neurology, Neurosurgery & Psychiatry, 1979 Centronuclear myopathy occurring sporadically in two African female children is reported, with details of clinical history and histological, histochemical, and ultrastructural findings, and a review of 58 previously reported cases. In spite of distinctive histological features, the clinical presentation of this condition is variable, there are ...
P L, Bill, G, Cole, N S, Proctor
openaire +2 more sources
Novel SPEG variants in a neonate with severe dilated cardiomyopathy and relatively mild hypotonia
Human Genome Variation, 2023 Striated muscle preferentially expressed protein kinase (SPEG) variants have been reported to cause centronuclear myopathy associated with cardiac diseases.
Hana Milena Fujimoto +12 more
doaj +1 more source