KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction. [electronic resource]
Producer: 20170605Description: 633-7 p. digitalISSN:- 1531-8249
- Apnea -- genetics
- Child, Preschool
- Deglutition Disorders -- genetics
- Developmental Disabilities -- genetics
- Fatal Outcome
- Female
- Frameshift Mutation
- Humans
- Infant
- Kinesins -- genetics
- Male
- Mitochondrial Diseases -- complications
- Muscle Hypotonia -- genetics
- Mutation
- Myoclonus -- genetics
- Optic Nerve -- abnormalities
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Publication Type: Case Reports; Journal Article
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