X-linked tubular myopathy

external

• Causes

  • Male gender
  • MTM1 gene mutation

• Effects

  • Large head
  • High arched palate
  • Inability to walk
  • Neuromuscular hypoventilation

• Parents

  • X-linked recessive disorder
  • Congenital myopathy

• Description

  • "MTM1 gene provides instructions for producing an enzyme called myotubularin. Myotubularin involved in the development and maintenance of muscle cells. "