Hereditary myopathy with early respiratory failure (HMERF): Still rare, but common enough

Neuromuscular Disorders

Volumn 28, Issue 3, 2018, Pages 268-276

  Tasca, Giorgio ^a   Udd, Bjarne ^b,c,d  

^a FONDAZIONE POLICLINICO UNIVERSITARIO A GEMELLI IRCCS   (Italy)

^b TAMPERE UNIVERSITY OF TECHNOLOGY   (Finland)

^c UNIVERSITY OF HELSINKI   (Finland)

^d VAASA CENTRAL HOSPITAL   (Finland)

Author keywords

Cytoplasmic body; Hereditary myopathy with early respiratory failure; HMERF; Titin; Titinopathy

Indexed keywords

CONNECTIN;

CLINICAL FEATURE; ELECTROMYOGRAPHY; GENE MUTATION; HEREDITARY MYOPATHY WITH EARLY RESPIRATORY FAILURE; HISTOPATHOLOGY; HUMAN; MOLECULAR GENETICS; MUSCLE BIOPSY; MYOPATHY; NONINVASIVE VENTILATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOGENESIS; PRIORITY JOURNAL; RESPIRATORY FAILURE; REVIEW; TTN GENE; GENETIC DISORDER; GENETICS; MUSCLE DISEASE; MUTATION; PATHOLOGY; SKELETAL MUSCLE;

CONNECTIN; GENETIC DISEASES, INBORN; HUMANS; MUSCLE, SKELETAL; MUSCULAR DISEASES; MUTATION; RESPIRATORY INSUFFICIENCY;

EID: 85040554971     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2017.12.002     Document Type: Review

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