Limb-girdle myasthenia with tubular aggregates associated with novel GFPT1 mutations

Muscle and Nerve

Volumn 46, Issue 4, 2012, Pages 600-604

  Huh, So Young ^a   Kim, Hyang Sook ^b   Jang, Ho Jung ^b   Park, Yeong Eun ^a   Kim, Dae Seong ^a,b  

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

^b Pusan National University Yangsan Hospital   (South Korea)

Author keywords

Cholinesterase inhibitor; Congenital myasthenic syndrome; GFPT1; Limb girdle myasthenia; Tubular aggregates

Indexed keywords

AMINOTRANSFERASE; CHOLINESTERASE INHIBITOR; GLUTAMINE FRUCTOSE 6 PHOSPHATE TRANSAMINASE 1; HEXOSAMINE; PYRIDOSTIGMINE; TETRAZOLIUM REDUCTASE; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; BIOSYNTHESIS; CASE REPORT; CLINICAL ASSESSMENT; CONGENITAL MYASTHENIC SYNDROME; DISEASE ASSOCIATION; DNA SEQUENCE; ELECTROMYOGRAPHY; FATIGUE; GLYCOSYLATION; HIP CONTRACTURE; HUMAN; KOREA; LABORATORY TEST; LIMB WEAKNESS; MALE; MISSENSE MUTATION; MUSCLE BIOPSY; MUSCLE STRENGTH; NEUROMUSCULAR JUNCTION DISORDER; NEUROPHYSIOLOGY; PHYSICAL EXAMINATION; PRIORITY JOURNAL; TENDON REFLEX;

ADOLESCENT; FEMALE; GENES, RECESSIVE; GLUTAMINE-FRUCTOSE-6-PHOSPHATE TRANSAMINASE (ISOMERIZING); HUMANS; MALE; MUSCLE, SKELETAL; MYASTHENIC SYNDROMES, CONGENITAL; NEUROMUSCULAR JUNCTION; PEDIGREE;

EID: 84866309474     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.23451     Document Type: Article

References (9)

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