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.
- Association of intradialytic blood pressure changes with hospitalization and mortality rates in prevalent ESRD patients.
- Brief clinical report and review: the Marden-Walker syndrome.
- Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease.
- Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism.
- 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 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.
- Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities.
- 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.
- 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.
- Non-lethal congenital hypotonia due to glycogen storage disease type IV.
- PURA Syndrome and Myotonia.
- Response of infantile spasms to levetiracetam.
- The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.
- The ischemic exercise test in normal adults and in patients with weakness and cramps.