An Italian case of hereditary myopathy with early respiratory failure (HMERF) not associated with the titin kinase domain R279W mutation.
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.
Tasca
Giorgio
G
Institute of Neurology, Catholic University School of Medicine, Rome, Italy. tasca.giorgio@virgilio.it
Mirabella
Massimiliano
M
Broccolini
Aldobrando
A
Monforte
Mauro
M
Sabatelli
Mario
M
Biscione
Gian Luca
GL
Piluso
Giulio
G
Gualandi
Francesca
F
Tonali
Pietro Attilio
PA
Udd
Bjarne
B
Ricci
Enzo
E
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