Limb-girdle phenotype is frequent in patients with myopathy associated with GNE mutations

Journal of the Neurological Sciences

Volumn 321, Issue 1-2, 2012, Pages 77-81

  Park, Young Eun ^a,b   Kim, Hyang Suk ^a   Choi, Eun Suk ^b   Shin, Jin Hong ^a   Kim, Sun Young ^c   Son, Eun Hui ^d   Lee, Chang Hoon ^b,e   Kim, Dae Seong ^a  

^a Pusan National University Yangsan Hospital   (South Korea)

^b Pusan National University School of Medicine   (South Korea)

^c University of Ulsan College of Medicine   (South Korea)

^d Chungnam National University College of Medicine   (South Korea)

^e Pusan National University School of Medicine   (South Korea)

Author keywords

Distal myopathy with rimmed vacuoles; GNE; Hereditary inclusion body myopathy

Indexed keywords

URIDINE DIPHOSPHATE N ACETYLGLUCOSAMINE 2 EPIMERASE;

ADULT; ARTICLE; CLINICAL ARTICLE; FEMALE; GENE MUTATION; HAMSTRING; HUMAN; HUMAN TISSUE; LIMB GIRDLE MYOPATHY; MALE; MUSCLE ATROPHY; MUSCLE BIOPSY; MYOPATHY; PHENOTYPE; PRIORITY JOURNAL; QUADRICEPS FEMORIS MUSCLE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; TIBIALIS ANTERIOR MUSCLE;

ADOLESCENT; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MIDDLE AGED; MULTIENZYME COMPLEXES; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION; PHENOTYPE; RNA, MESSENGER; TOMOGRAPHY, X-RAY COMPUTED; YOUNG ADULT;

EID: 84866018938     PISSN: 0022510X     EISSN: 18785883     Source Type: Journal    
DOI: 10.1016/j.jns.2012.07.061     Document Type: Article

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