title: An Italian case of hereditary myopathy with early respiratory failure (HMERF) not associated with the titin kinase domain R279W mutation.
abstract: 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 TTN gene was excluded. This report expands the geographical region of incidence and encourages additional studies to clarify the genetic heterogeneity of the condition.
authors: Institute of Neurology, Catholic University School of Medicine, Rome, Italy. tasca.giorgio@virgilio.it
authors: Giorgio
authors: G
authors: Tasca
authors: Massimiliano
authors: M
authors: Mirabella
authors: Aldobrando
authors: A
authors: Broccolini
authors: Mauro
authors: M
authors: Monforte
authors: Mario
authors: M
authors: Sabatelli
authors: Gian Luca
authors: GL
authors: Biscione
authors: Giulio
authors: G
authors: Piluso
authors: Francesca
authors: F
authors: Gualandi
authors: Pietro Attilio
authors: PA
authors: Tonali
authors: Bjarne
authors: B
authors: Udd
authors: Enzo
authors: E
authors: Ricci
mesh_terms: D000328:Adult; D020022:Genetic Predisposition to Disease; D006801:Humans; D007558:Italy; D008297:Male; D008928:Mitochondria / Q000473:pathology; D018908:Muscle Weakness / Q000235:genetics* / Q000473:pathology; D018482:Muscle, Skeletal / Q000473:pathology*; D009135:Muscular Diseases / Q000235:genetics* / Q000473:pathology; D012131:Respiratory Insufficiency / Q000235:genetics* / Q000473:pathology