Ontology highlight
ABSTRACT:
SUBMITTER: Giannopoulou EZ
PROVIDER: S-EPMC4614651 | biostudies-literature | 2015 Oct
REPOSITORIES: biostudies-literature
Giannopoulou Eleni Z EZ Martin Thomas T Wirth Brunhilde B Yilmaz Umut U Gortner Ludwig L Meyer Sascha S
Clinical case reports 20150902 10
Muscular hypotonia in infants may be associated with several conditions, such as spinal muscular atrophy (SMA). We report on an infant with tongue fasciculations and a rare mutation of the SMN1 gene. The presence of tongue fasciculations in combination with a thorough history may be suggestive of SMA. ...[more]