The phenotypic and mutational spectrum of BICD2-related disorders

Takeaway

  • Three new mutations were identified in five Spanish families carrying a BICD2 gene mutation.

  • There is a selective pattern of thigh and leg muscle involvement in BICD2-related disorders, with considerable clinical variability existing among individuals.

Why this matters

    Magnetic resonance imaging (MRI) evaluation at the level of the pelvis and feet will facilitate the diagnosis of BICD2-related neuromuscular diseases and help define the pattern of muscle involvement in the condition.