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X-linked myotubular myopathy [1 record]

Record 1 2014-11-28

English

Subject field(s)
  • Genetics
  • Muscles and Tendons
DEF

A rare genetic neuromuscular disorder that is characterized by muscle weakness that can range from mild to profound.

OBS

Common symptoms include mild to profound muscle weakness, diminished muscle tone (hypotonia or "floppiness"), feeding difficulties, and potentially severe breathing complications (respiratory distress). Feeding difficulties and respiratory distress develop because of weakness of the muscles that are involved in swallowing and breathing.

French

Domaine(s)
  • Génétique
  • Muscles et tendons

Spanish

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