KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction.
Duis, Jessica
KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction. [electronic resource] - Annals of neurology Oct 2016 - 633-7 p. digital
Publication Type: Case Reports; Journal Article
1531-8249
10.1002/ana.24744 doi
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
KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction. [electronic resource] - Annals of neurology Oct 2016 - 633-7 p. digital
Publication Type: Case Reports; Journal Article
1531-8249
10.1002/ana.24744 doi
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