BCAP31-associated encephalopathy and complex movement disorder mimicking mitochondrial encephalopathy. [electronic resource]
- American journal of medical genetics. Part A Jun 2017
- 1640-1643 p. digital
Publication Type: Case Reports; Journal Article
1552-4833
10.1002/ajmg.a.38127 doi
Child, Preschool Hearing Loss, Sensorineural--diagnostic imaging Heterozygote Humans Male Membrane Proteins--genetics Mitochondrial Encephalomyopathies--diagnostic imaging Movement Disorders--diagnostic imaging Mutation