Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1

Annals of Neurology

Volumn 74, Issue 6, 2013, Pages 914-919

  Nilsson, Johanna ^a   Schoser, Benedikt ^b   Laforet, Pascal ^c   Kalev, Ognian ^d   Lindberg, Christopher ^e   Romero, Norma B ^f   Dávila Lõpez, Marcela ^a   Akman, Hasan O ^g   Wahbi, Karim ^h,k   Iglseder, Stephan ⁱ   Eggers, Christian ⁱ   Engel, Andrew G ^j   Dimauro, Salvatore ^g   Oldfors, Anders ^a  

^a UNIVERSITY OF GOTHENBURG   (Sweden)

^b LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^c PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^d KEPLER UNIVERSITY HOSPITAL   (Austria)

^e SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

^f SORBONNE UNIVERSITÉ   (France)

^g NewYork Presbyterian Hospital   (United States)

^h Cardiology Department ^*  (France)

ⁱ Pleoptic and Neuroophthalmology   (Austria)

^j Mayo Clinic   (United States)

^k University of Sorbonne Paris la Cité   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

RBCK1 ENZYME; UBIQUITIN PROTEIN LIGASE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CARDIOMYOPATHY; CONGESTIVE CARDIOMYOPATHY; ELECTRON MICROSCOPY; EXOME; FEMALE; HEART FAILURE; HEPATOMEGALY; HUMAN; LEG MUSCLE; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; MISSENSE MUTATION; MOLECULAR GENETICS; MUSCLE WEAKNESS; MYOPATHY; POLYGLUCOSAN BODY MYOPATHY; PRIORITY JOURNAL; SKELETAL MUSCLE;

ADOLESCENT; ADULT; CARDIOMYOPATHIES; FEMALE; GENOME, HUMAN; GLYCOGEN STORAGE DISEASE; HUMANS; MALE; MIDDLE AGED; MUSCLE WEAKNESS; MUSCULAR DISEASES; MUTATION, MISSENSE; NERVOUS SYSTEM DISEASES; TRANSCRIPTION FACTORS; UBIQUITIN; YOUNG ADULT;

EID: 84883768942     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.23963     Document Type: Article

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