Disease | hypotonia |
Phenotype | C0878544|cardiomyopathy |
Sentences | 2 |
PubMedID- PMC3298099 | Gaa enzymatic assay should be firstly performed in patients showing hypertrophic cardiomyopathy in combination with generalized hypotonia, hypertransaminasemia and incresased cpk. |
PubMedID- 22002928 | Affected individuals exhibit either severe hypotonia associated with hypertrophic cardiomyopathy (infantile forms) or progressive muscle weakness (late-onset forms). |
Page: 1