Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency [PDF]
, 2015 Disorders of the mitochondrial energy metabolism are clinically and genetically heterogeneous. An increasingly recognized subgroup is caused by defective mitochondrial iron-sulfur (Fe-S) cluster biosynthesis, with defects in 13 genes being linked to ...
Angela eHagendorff +26 more
core +3 more sources
Journal of Biochemical and Clinical Genetics, 2020 Background: Congenital myopathies are a diverse group of diseases that share features from the early onset of symptoms in the first year of life, such as hypotonia, muscle weakness, and developmental delays, and are often associated with respiratory ...
Rana Almutairi +8 more
doaj +1 more source
Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency [PDF]
, 2018 Background: The first subjects with deficiency of mitochondrial tryptophanyl-tRNA synthetase (WARS2) were reported in 2017. Their clinical characteristics can be subdivided into three phenotypes (neonatal phenotype, severe infantile onset phenotype ...
De Bruyne, Ruth +9 more
core +1 more source
Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation [PDF]
, 2010 Objective Mitochondrial disturbances of energy-generating systems in childhood are a heterogeneous group of disorders. The aim of this multi-site survey was to characterise the natural course of a novel mitochondrial disease with ATP synthase deficiency ...
Bodamer, O +15 more
core +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
Sleep clinical record. what differences in school and preschool children? [PDF]
, 2016 The sleep clinical record (SCR) may be a valid method for detecting children with obstructive sleep apnoea (OSA). This study aimed to evaluate whether there were differences in SCR depending on age and to identify the possible risk factors for OSA ...
Barreto, Mario +6 more
core +2 more sources
A Nemaline Myopathy Presenting with Perinatal Asphyxia
Ankara Üniversitesi Tıp Fakültesi Mecmuası, 2015 Nemaline myopathy is a rare hereditary neuromuscular disease characterized by variable degree of non-progressive or slowly progressive generalized muscle weakness. Clinical features are mostly related with muscle weakness and hypotonia.
Nisa Eda Çullas İlarslan +7 more
doaj +1 more source
Hypotonia–cystinuria 2p21 deletion syndrome: Intrafamilial variability of clinical expression
Annals of Clinical and Translational Neurology, 2021 Two siblings presented similarly with congenital hypotonia, lactic acidosis, and failure to thrive. Later in childhood, the brother developed cystinuria and nephrolithiasis whereas the older sister suffered from cystinuria and chronic neurobehavioral ...
Atif Towheed +8 more
doaj +1 more source
Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy [PDF]
, 2013 Amphiphysin 2, encoded by BIN1, is a key factor for membrane sensing and remodelling in different cell types. Homozygous BIN1 mutations in ubiquitously expressed exons are associated with autosomal recessive centronuclear myopathy (CNM), a mildly ...
A Buj-Bello +58 more
core +7 more sources
Abnormal motoneuron migration, differentiation, and axon outgrowth in spinal muscular atrophy [PDF]
, 2008 The role of heterotopic (migratory) motoneurons (HMN) in the pathogenesis of spinal muscular atrophy (SMA) is still controversial. We examined the occurrence and amount of HMN in spinal cord tissue from eight children with SMA (six with SMA-I and two ...
Barišić, Nina +10 more
core +1 more source