A Mild Form of COG5 Defect Showing Early-Childhood-Onset Friedreich's-Ataxia-Like Phenotypes with Isolated Cerebellar Atrophy.
We reported a milder form of COG5 defect showing Friedreich's-ataxia-like phenotypes without hypotonia, microcephaly, and short stature that were observed in most patients with COG5 defect.
PMID: 28960046 [PubMed - in process]
Source: Journal of Korean Medical Science - Category: Biomedical Science Tags: J Korean Med Sci Source Type: research
More News: Ataxia | Back Curves | Biomedical Science | Cardiology | Cardiomyopathy | Disability | Friedreich's Ataxia | Genetics | Heart | Opthalmology | Rare Diseases | Science | Scoliosis | Skin