Al Teneiji, Amal

Progressive Cerebellar Atrophy and a Novel Homozygous Pathogenic DNAJC19 Variant as a Cause of Dilated Cardiomyopathy Ataxia Syndrome. [electronic resource] - Pediatric neurology 09 2016 - 58-61 p. digital

Publication Type: Case Reports; Journal Article; Review

1873-5150

10.1016/j.pediatrneurol.2016.03.020 doi


Adolescent
Cardiomyopathy, Dilated--diagnostic imaging
Cerebellar Ataxia--diagnostic imaging
Diagnosis, Differential
Female
Genetic Variation
Homozygote
Humans
Mitochondrial Membrane Transport Proteins--genetics
Phenotype