Characteristics of myotubularin 1-related myopathy carriers

Takeaway

  • The presence of asymmetric muscle weakness and skeletal size can assist in the diagnosis of myotubularin 1 (MTM1)-related myopathy in carriers of MTM1 mutations where family history is not available.

Why this matters

    Muscle weakness and ambulatory status, as assessed by muscle magnetic resonance imaging (MRI), pulmonary function tests, and Motor Function Measure 32 (MFM-32) scale, are potential markers of disease progression and outcome measures in future clinical trials.