Myopathic changes associated with psychomotor delay and seizures caused by a novel homozygous mutation in TBCK. [electronic resource]
Producer: 20200925Description: 266-271 p. digitalISSN:- 1097-4598
- Adolescent
- Brain -- diagnostic imaging
- Brain Diseases -- diagnostic imaging
- Child
- Developmental Disabilities -- genetics
- Female
- Homozygote
- Humans
- Leukoencephalopathies -- diagnostic imaging
- Loss of Function Mutation
- Magnetic Resonance Imaging
- Muscle Hypotonia -- genetics
- Muscle Weakness -- genetics
- Muscle, Skeletal -- pathology
- Muscular Diseases -- genetics
- Protein Serine-Threonine Kinases -- genetics
- Psychomotor Disorders -- genetics
- Reflex, Abnormal -- genetics
- Seizures -- genetics
- Severity of Illness Index
- Siblings
- Syndrome
- Exome Sequencing
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Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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