A case of hereditary inclusion body myopathy: 1 Patient, 2 novel mutations

Journal of Clinical Neuromuscular Disease

Volumn 7, Issue 4, 2006, Pages 179-184

  Fisher, Justin ^a   Towfighi, Javad ^a   Darvish, Daniel ^b   Simmons, Zachary ^a  

^a PENN STATE MILTON S HERSHEY MEDICAL CENTER   (United States)

^b HIBM Research Group   (United States)

Author keywords

GNE gene; Hereditary inclusion body myopathy; Inclusion body myopathy; Rimmed vacuoles

Indexed keywords

PHOSPHOTRANSFERASE; UNCLASSIFIED DRUG; URIDINE DIPHOSPHATE N ACETYLGLUCOSAMINE 2 EPIMERASE N ACETYLMANNOSAMINE KINASE;

ADULT; ARTICLE; CASE REPORT; CELL INCLUSION; CLINICAL FEATURE; DISTAL MYOPATHY; ELECTRODIAGNOSIS; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; HETEROZYGOTE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; LABORATORY TEST; LEG; MOLECULAR GENETICS; MUSCLE DISEASE; MUSCLE WEAKNESS; PHYSICAL EXAMINATION; PRIORITY JOURNAL;

EID: 33749441152     PISSN: 15220443     EISSN: 15371611     Source Type: Journal    
DOI: 10.1097/01.cnd.0000211406.94445.f0     Document Type: Article

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