Home Contact Sitemap

PedAM

Pediatric Disease Annotations & Medicines




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