Clinical features, lectin staining, and a novel GNE frameshift mutation in hereditary inclusion body myopathy

Clinical Neuropathology

Volumn 29, Issue 2, 2010, Pages 71-77

  Voermans, N C ^a   Guillard, M ^a   Doedee R ^a   Lammens, M ^a   Huizing, M ^b   Padberg, G W ^a   Wevers, R A ^a   Van Engelen, B G ^a   Lefeber, D J ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

Distal myopathy; GlcNac 2 epimerase ManNac kinase; Glycosylation; Hereditary inclusion body myopathy; HIBM; Hyposialylation; Muscular dystrophy; PNA lectin; Sialic acid; UDP

Indexed keywords

ADENOSINE; GUANOSINE; LECTIN; METHIONINE; URIDINE DIPHOSPHATE N ACETYLGLUCOSAMINE 2 EPIMERASE; VALINE;

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; ELECTROMYOGRAM; FEMALE; FRAMESHIFT MUTATION; HEREDITARY INCLUSION BODY MYOPATHY; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MALE; MISSENSE MUTATION; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; MYOPATHY; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; QUADRICEPS FEMORIS MUSCLE; SARCOLEMMA; STOP CODON;

ADULT; DNA MUTATIONAL ANALYSIS; FEMALE; FRAMESHIFT MUTATION; HUMANS; ISOELECTRIC FOCUSING; MAGNETIC RESONANCE IMAGING; MALE; MULTIENZYME COMPLEXES; MUSCLE, SKELETAL; MYOSITIS, INCLUSION BODY; NEURAMINIDASE; PEANUT AGGLUTININ; POLYMERASE CHAIN REACTION; SIBLINGS;

EID: 77950963311     PISSN: 07225091     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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