An Italian case of hereditary myopathy with early respiratory failure (HMERF) not associated with the titin kinase domain R279W mutation

作者：Tasca Giorgio^*; Mirabella Massimiliano; Broccolini Aldobrando; Monforte Mauro; Sabatelli Mario; Biscione Gian Luca; Piluso Giulio; Gualandi Francesca; Tonali Pietro Attilio; Udd Bjarne; Ricci Enzo

来源：Neuromuscular Disorders, 2010, 20(11): 730-734.

DOI：10.1016/j.nmd.2010.07.269

• HMERF
• Early respiratory failure
• Cytoplasmic body

Hereditary myopathy with early respiratory failure (HMERF) is a rare disorder characterized by severe respiratory involvement at onset, muscle weakness starting in the early adulthood, and cytoplasmic bodies with peculiar immunohistochemical reactivity on muscle biopsy. Here we describe a patient who presented with hypercapnic coma at age 32. A detailed light and electron microscopy analysis on muscle biopsy was performed and, together with clinical data, led to the diagnosis. The R279W mutation in the UN gene was excluded. This report expands the geographical region of incidence and encourages additional studies to clarify the genetic heterogeneity of the condition.

• 出版日期2010-11