Muscle Hypotonia

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  Subject Areas on Research

  • A 137-kb deletion within the Potocki-Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia. 
  • A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 
  • An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. 
  • Association of intradialytic blood pressure changes with hospitalization and mortality rates in prevalent ESRD patients. 
  • Brief clinical report and review: the Marden-Walker syndrome. 
  • CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. 
  • Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease. 
  • De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia. 
  • De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype. 
  • De novo and complex imbalanced chromosomal rearrangements revealed by array CGH in a patient with an abnormal phenotype and apparently "balanced" paracentric inversion of 14(q21q23). 
  • De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay. 
  • Diagnostic challenges for Pompe disease: an under-recognized cause of floppy baby syndrome. 
  • Factors related to hip muscle weakness following fixation of acetabular fractures. 
  • Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy. 
  • Hand weakness in the elderly. 
  • Life-threatening congestive heart failure as the presentation of centronuclear myopathy. 
  • Low anal sphincter tone in infantile-onset Pompe Disease: an emerging clinical issue in enzyme replacement therapy patients requiring special attention. 
  • Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children. 
  • Mitochondrial cytochrome deficiency presenting as a myopathy with hypotonia, external ophthalmoplegia, and lactic acidosis in an infant and as fatal hepatopathy in a second cousin. 
  • Muscular dystrophy versus mitochondrial myopathy: the dilemma of the undiagnosed hypotonic child. 
  • Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. 
  • Neonatal hypotonia and cardiomyopathy secondary to type IV glycogenosis. 
  • Neurological signs in congenital iodine-deficiency disorder (endemic cretinism). 
  • Non-lethal congenital hypotonia due to glycogen storage disease type IV. 
  • Paternal deletion from Snrpn to Ube3a in the mouse causes hypotonia, growth retardation and partial lethality and provides evidence for a gene contributing to Prader-Willi syndrome. 
  • Response of infantile spasms to levetiracetam. 
  • The ischemic exercise test in normal adults and in patients with weakness and cramps. 
  • Transcriptional changes and developmental abnormalities in a zebrafish model of myotonic dystrophy type 1.