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

Neuromuscular Disorders

Volumn 20, Issue 11, 2010, Pages 730-734

  Tasca, Giorgio ^a   Mirabella, Massimiliano ^a,b   Broccolini, Aldobrando ^a,b   Monforte, Mauro ^a   Sabatelli, Mario ^a   Biscione, Gian Luca ^c   Piluso, Giulio ^d   Gualandi, Francesca ^e   Tonali, Pietro Attilio ^a,b   Udd, Bjarne ^f,g,h   Ricci, Enzo ^a,b  

^a CATHOLIC UNIVERSITY   (Italy)

^b IRCCS FONDAZIONE DON CARLO GNOCCHI   (Italy)

^c San Raffaele Velletri ^*  (Italy)

^d SECOND UNIVERSITY OF NAPLES   (Italy)

^e UNIVERSITY OF FERRARA   (Italy)

^f UNIVERSITY OF HELSINKI   (Finland)

^g TAMPERE UNIVERSITY HOSPITAL   (Finland)

^h VAASA CENTRAL HOSPITAL   (Finland)

Author keywords

Cytoplasmic body; Early respiratory failure; HMERF

Indexed keywords

CONNECTIN;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; COMA; ELECTRON MICROSCOPY; GENE MUTATION; GENETIC HETEROGENEITY; GEOGRAPHIC DISTRIBUTION; HEREDITARY MYOPATHY WITH EARLY RESPIRATORY FAILURE; HUMAN; HYPERCAPNIA; KINASE DOMAIN; MALE; MICROSCOPY; MUSCLE BIOPSY; MYOPATHY; ONSET AGE; PRIORITY JOURNAL; PROTEIN DOMAIN;

ADULT; GENETIC PREDISPOSITION TO DISEASE; HUMANS; ITALY; MALE; MITOCHONDRIA; MUSCLE WEAKNESS; MUSCLE, SKELETAL; MUSCULAR DISEASES; RESPIRATORY INSUFFICIENCY;

EID: 77957752733     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2010.07.269     Document Type: Article

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