Novel GNE mutations in two phenotypically distinct HIBM2 patients

Neuromuscular Disorders

Volumn 21, Issue 2, 2011, Pages 102-105

  Weihl, Conrad C ^a   Miller, Sara E ^a   Zaidman, Craig M ^a   Pestronk, Alan ^a   Baloh, Robert H ^a   Al Lozi, Mohammed ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Distal myopathy; GNE; IBM; Rimmed vacuoles

Indexed keywords

COLESEVELAM; EZETIMIBE; URIDINE DIPHOSPHATE N ACETYLGLUCOSAMINE 2 EPIMERASE;

ADULT; AGED; ANAMNESIS; ARTICLE; CASE REPORT; CELL VACUOLE; CLINICAL FEATURE; CONTROLLED STUDY; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; DRUG WITHDRAWAL; DUCHENNE MUSCULAR DYSTROPHY; FAMILY HISTORY; FEMALE; FORCED EXPIRATORY VOLUME; GENE MUTATION; HEREDITARY INCLUSION BODY MYOPATHY TYPE 2; HUMAN; HUMAN TISSUE; HYPERCHOLESTEROLEMIA; HYPERLIPIDEMIA; MALE; MUSCLE BIOPSY; MUSCLE NECROSIS; MUSCLE WEAKNESS; MYOPATHY; NEUROPATHOLOGY; ONSET AGE; PHENOTYPIC VARIATION; PRIORITY JOURNAL; PTOSIS; QUADRICEPS FEMORIS MUSCLE; RESPIRATORY FAILURE; WESTERN HEMISPHERE;

AGED; BIOPSY; FEMALE; HUMANS; MALE; MIDDLE AGED; MULTIENZYME COMPLEXES; MUSCLE WEAKNESS; MUSCLE, SKELETAL; MUTATION, MISSENSE; MYOSITIS, INCLUSION BODY; PHENOTYPE; RESPIRATORY INSUFFICIENCY;

EID: 78751591293     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2010.11.002     Document Type: Article

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