Ontology highlight
ABSTRACT:
SUBMITTER: Man BL
PROVIDER: S-EPMC4054476 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
BMJ case reports 20140603
We report the first case of a Chinese family with McLeod syndrome (MLS). The two affected brothers show significant phenotypic heterogeneity. The index case has peripheral acanthocytosis, choreoathetosis of his feet, a slowly progressive neuropathy and myopathy, and an elevated serum creatine kinase (CK) level. His elder brother has more prominent chorea of the shoulders, epilepsy, a rapidly progressive neuropathy and normal serum CK. The diagnosis of MLS was confirmed by a genetic test which sh ...[more]