title: Dysferlin-Deficient Muscular Dystrophy Identified Through Laboratory Testing for Elevated Aminotransferases.
abstract: We present a 24-year-old combat veteran who underwent extensive work-up for elevated aminotransferases, including liver biopsy, with no underlying pathology identified. Subsequent investigations showed elevated creatinine kinase and aldolase. The patient was later diagnosed with biopsy-proven dysferlin-deficient muscular dystrophy. Persistent transaminase elevation despite negative liver work-up should prompt clinicians to consider extrahepatic sources of enzyme elevation. Promptly correlating aminotransferase elevation with musculoskeletal pathology may present an opportunity for clinicians to detect myopathies such as muscular dystrophy in their preclinical stages.
authors.affiliation: Department of Internal Medicine, Phoenix VA Health Care System, Phoenix, AZ.
authors.forename: Tyler
authors.initials: T
authors.lastname: Aasen
authors.affiliation: Department of Internal Medicine, Phoenix VA Health Care System, Phoenix, AZ.
authors.forename: Houry
authors.initials: H
authors.lastname: Achdjian
authors.affiliation: Department of Gastroenterology, Phoenix VA Health Care System, Phoenix, AZ.
authors.forename: Yousef
authors.initials: Y
authors.lastname: Usta
authors.affiliation: Department of Gastroenterology, Phoenix VA Health Care System, Phoenix, AZ.
authors.forename: Rakesh
authors.initials: R
authors.lastname: Nanda