A novel mutation of the GNE gene in distal myopathy with rimmed vacuoles: A case with inflammation

Case Reports in Neurology

Volumn 6, Issue 1, 2014, Pages 55-59

  Tanboon, Jantima ^a   Rongsa, Kanjana ^a   Pithukpakorn, Manop ^a   Boonyapisit, Kanokwan ^a   Limwongse, Chanin ^a   Sangruchi, Tumtip ^a  

^a MAHIDOL UNIVERSITY   (Thailand)

Author keywords

Distal myopathy with rimmed vacuoles; Hereditary inclusion body myopathy; Inflammation; UDP N acetylglucosamine 2 epimerase and N acetylmannosamine kinase

Indexed keywords

CORTICOSTEROID; CREATINE KINASE; METHIONINE; VALINE;

ADULT; AMINO ACID SUBSTITUTION; ARM WEAKNESS; ARTICLE; CASE REPORT; CORTICOSTEROID THERAPY; CREATINE KINASE BLOOD LEVEL; DISTAL MYOPATHY; DISTAL MYOPATHY WITH RIMMED VACUOLE; DNA SEQUENCE; ELECTROMYOGRAM; GENE; GENE MUTATION; GNE GENE; HETEROZYGOSITY; HUMAN; MALE; MOLECULAR GENETICS; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE MASS; MUSCLE STRENGTH; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; NERVE CONDUCTION; NUCLEAR MAGNETIC RESONANCE IMAGING; PHYSICAL EXAMINATION; PRIORITY JOURNAL; BICEPS BRACHII MUSCLE; CD3+ T LYMPHOCYTE; CELL VACUOLE; CODON; CONSANGUINEOUS MARRIAGE; DELTOID MUSCLE; EXON; GASTROCNEMIUS MUSCLE; GENETIC ANALYSIS; HAND MUSCLE; HETEROZYGOTE; HUMAN TISSUE; INFLAMMATION; LIMB WEAKNESS; LIMITED MOBILITY; LYMPHOCYTIC INFILTRATION; MEDICAL RESEARCH COUNCIL SCALE; MUSCULOSKELETAL SYSTEM EXAMINATION; MYOPATHY; POLYMERASE CHAIN REACTION; QUADRICEPS FEMORIS MUSCLE; SOLEUS MUSCLE; SUPRASPINATUS MUSCLE; TIBIALIS ANTERIOR MUSCLE; TRICEPS BRACHII MUSCLE;

EID: 84900482850     PISSN: None     EISSN: 1662680X     Source Type: Journal    
DOI: 10.1159/000360730     Document Type: Article

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