Hereditary inclusion-body myopathy with sparing of the quadriceps: The many tiles of an incomplete puzzle

Acta Myologica

Volumn 30, Issue OCTOBER, 2011, Pages 91-95

  Broccolini, A ^a,b   Gidaro, T ^a,b   Morosetti, R ^a,b   Sancricca, C ^a,b   Mirabella, M ^a,b  

^a CATHOLIC UNIVERSITY   (Italy)

^b IRCCS FONDAZIONE DON CARLO GNOCCHI   (Italy)

Author keywords

GNE mutations; h IBM; Quadriceps sparing myopathy

Indexed keywords

GLYCOPROTEIN; SIALIC ACID; URIDINE DIPHOSPHATE N ACETYLGLUCOSAMINE 2 EPIMERASE;

AUTOSOMAL RECESSIVE DISORDER; CELL INCLUSION; GENE; HEREDITARY INCLUSION BODY MYOPATHY; HOMEOSTASIS; MUSCLE BIOPSY; MUTATION; MYOPATHY; QUADRICEPS FEMORIS MUSCLE; REVIEW;

DISEASE PROGRESSION; HUMANS; INCLUSION BODIES; INHERITANCE PATTERNS; MULTIENZYME COMPLEXES; MUTATION; MYOSITIS, INCLUSION BODY; QUADRICEPS MUSCLE; SIALIC ACIDS;

EID: 81455148190     PISSN: 11282460     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

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