Ontology highlight
ABSTRACT:
SUBMITTER: Bhatia A
PROVIDER: S-EPMC6893088 | biostudies-literature | 2019 Nov - Dec
REPOSITORIES: biostudies-literature
Bhatia Aashim A Mobley Bret C BC Cogan Joy J Koziura Mary E ME Brokamp Elly E Phillips John J Newman John J Moore Steven A SA Hamid Rizwan R
Clinical imaging 20190621
Mutations in the torsinA-interacting protein 1 (TOR1AIP1) gene result in a severe muscular dystrophy with minimal literature in the pediatric population. We review a case of TOR1AIP1 gene mutation in a 16-year-old Caucasian female with a long history of muscle weakness. Extensive clinical workup was performed and MRI at time of initial presentation demonstrated no significant muscular atrophy with heterogenous STIR hyperintensity of the lower extremity muscles. MRI findings seven years later inc ...[more]