GNE myopathy: A prospective natural history study of disease progression

Neuromuscular Disorders

Volumn 24, Issue 5, 2014, Pages 380-386

  Mori Yoshimura, Madoka ^a   Oya, Yasushi ^a   Yajima, Hiroyuki ^a   Yonemoto, Naohiro ^a   Kobayashi, Yoko ^a   Hayashi, Yukiko K ^b,c   Noguchi, Satoru ^c   Nishino, Ichizo ^a,c   Murata, Miho ^a  

^a NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

^b TOKYO MEDICAL UNIVERSITY   (Japan)

^c NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

Author keywords

Distal myopathy with rimmed vacuoles (DMRV); GNE myopathy; Natural history; Respiratory function

Indexed keywords

URIDINE DIPHOSPHATE N ACETYLGLUCOSAMINE 2 EPIMERASE; MULTIENZYME COMPLEX; UDP-N-ACETYLGLUCOSAMINE 2-EPIMERASE - N-ACETYLMANNOSAMINE KINASE;

6 MIN WALK TEST; ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CLINICAL ASSESSMENT TOOL; CLINICAL EVALUATION; DISEASE COURSE; FEMALE; FOLLOW UP; FORCED VITAL CAPACITY; GNE MYOPATHY; GRIP POWER TEST; GROSS MOTOR FUNCTION MEASURE; HISTORY; HUMAN; MALE; MANUAL MUSCLE TESTING; MOBILIZATION; MYOPATHY; PRIORITY JOURNAL; PROSPECTIVE STUDY; DISABILITY; DISTAL MYOPATHIES; GENETICS; HAND STRENGTH; HEART FUNCTION TEST; LUNG FUNCTION TEST; MIDDLE AGED; MOTOR ACTIVITY; MUSCLE STRENGTH; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; WALKING; YOUNG ADULT;

ADOLESCENT; ADULT; DISABILITY EVALUATION; DISEASE PROGRESSION; DISTAL MYOPATHIES; DNA MUTATIONAL ANALYSIS; FEMALE; FOLLOW-UP STUDIES; HAND STRENGTH; HEART FUNCTION TESTS; HUMANS; MALE; MIDDLE AGED; MOTOR ACTIVITY; MULTIENZYME COMPLEXES; MUSCLE STRENGTH; PROSPECTIVE STUDIES; RESPIRATORY FUNCTION TESTS; WALKING; YOUNG ADULT;

EID: 84899053086     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2014.02.008     Document Type: Article

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