DMD – BIOMARKERS & OUTCOME MEASURES: P.132 Symptomatic female carrier of Duchenne muscular dystrophy with a novel single-base deletion mutation mimicking exon deletion in MLPA

Abstract

Duchenne/Becker muscular dystrophy (DMD/BMD) is one of the most common muscle disorders characterized by an X-linked recessive inheritance pattern affecting male patients traditionally. Most DMD/BMD carriers remain asymptomatic, while only 2.5–10% of carriers are symptomatic and classified as symptomatic carriers. A 50-year-old female patient visited the neurological outpatient clinic complaining of progressive weakness of the lower legs since childhood. She also complained of frequent falls while walking and presented with an enlarged calf and Gowers' sign.