Distal myopathy with rimmed vacuoles and inflammation: A genetically proven case

Neurology India

Volumn 60, Issue 6, 2012, Pages 631-634

  Kannan, Meena A ^a,b   Challa, S ^b   Urtizberea, Andoni J ^a   Krahn, Martin ^c   Jabeen, A S ^a   Borgohain, R ^a  

^a Department of Neurology ^*  (India)

^b NIZAM'S INSTITUTE OF MEDICAL SCIENCES   (India)

^c PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

Distal myopathy; GNE gene; Rimmed vacuoles

Indexed keywords

CREATINE KINASE; MULTIENZYME COMPLEX; UDP-N-ACETYLGLUCOSAMINE 2-EPIMERASE - N-ACETYLMANNOSAMINE KINASE;

ADULT; ARTICLE; CASE REPORT; CREATINE KINASE BLOOD LEVEL; DISTAL MYOPATHY; DISTAL MYOPATHY WITH RIMMED VACUOLE; ELECTROMYOGRAM; GENE; GLUTEUS MAXIMUS MUSCLE; GNE GENE; HAMSTRING; HAND MUSCLE; HUMAN; LIMB WEAKNESS; MALE; MISSENSE MUTATION; MUSCLE ATROPHY; MUSCLE BIOPSY; MYOSITIS; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; QUADRICEPS FEMORIS MUSCLE; STERNOCLEIDOMASTOID MUSCLE; TIBIALIS ANTERIOR MUSCLE; CELL VACUOLE; COMPLICATION; GENETICS; INFLAMMATION; MUTATION; PATHOLOGY; SKELETAL MUSCLE; YOUNG ADULT;

DISTAL MYOPATHIES; HUMANS; INFLAMMATION; MALE; MULTIENZYME COMPLEXES; MUSCLE, SKELETAL; MUTATION; VACUOLES; YOUNG ADULT;

EID: 84872171151     PISSN: 00283886     EISSN: 19984022     Source Type: Journal    
DOI: 10.4103/0028-3886.105199     Document Type: Article

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