Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies

Brain

Volumn 138, Issue 9, 2015, Pages 2493-2504

  Belaya, Katsiaryna ^a   Rodríguez Cruz, Pedro M ^a,b   Liu, Wei Wei ^a   Maxwell, Susan ^a   McGowan, Simon ^c   Farrugia, Maria E ^d   Petty, Richard ^d   Walls, Timothy J ^e   Sedghi, Maryam ^f   Basiri, Keivan ^g   Yue, Wyatt W ^a   Sarkozy, Anna ^h,i   Bertoli, Marta ^h   Pitt, Matthew ^j   Kennett, Robin ^b   Schaefer, Andrew ^e   Bushby, Kate ^h   Parton, Matt ⁱ   Lochmüller, Hanns ^h   Palace, Jacqueline ^b   Muntoni, Francesco ^k   Beeson, David ^a   more..

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^c UNIVERSITY OF OXFORD   (United Kingdom)

^d SOUTHERN GENERAL HOSPITAL   (United Kingdom)

^e ROYAL VICTORIA INFIRMARY   (United Kingdom)

^f ISFAHAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^g ISFAHAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^h NEWCASTLE UNIVERSITY   (United Kingdom)

ⁱ NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^j GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^k UNIVERSITY COLLEGE LONDON   (United Kingdom)

more..

Author keywords

congenital myasthenic syndrome; dystroglycan; glycosylation; GMPPB; neurotransmission defect

Indexed keywords

CREATINE KINASE; MANNOSE 1 PHOSPHATE GUANYLTRANSFERAS BETA; PEPTIDES AND PROTEINS; UNCLASSIFIED DRUG; DYSTROGLYCAN; MANNOSE 1-PHOSPHATE GUANYLYLTRANSFERASE; NUCLEOTIDYLTRANSFERASE;

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL MYASTHENIC SYNDROME; CREATINE KINASE BLOOD LEVEL; DYSTROGLYCANOPATHY; ELECTROMYOGRAPHY; FEMALE; GENE MUTATION; GLYCOSYLATION; HUMAN; MALE; MIDDLE AGED; MUSCLE ACTION POTENTIAL; MUSCLE BIOPSY; MUSCULAR DYSTROPHY; NERVE STIMULATION; NEUROMUSCULAR TRANSMISSION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; ADOLESCENT; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; GENETIC TRANSFECTION; GENETICS; HEK293 CELL LINE; METABOLISM; MUTATION; NEUROMUSCULAR JUNCTION; PATHOLOGY; PATHOPHYSIOLOGY; SKELETAL MUSCLE; YOUNG ADULT;

ADOLESCENT; ADULT; DNA MUTATIONAL ANALYSIS; DYSTROGLYCANS; FAMILY HEALTH; FEMALE; HEK293 CELLS; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MUSCLE, SKELETAL; MUTATION; MYASTHENIC SYNDROMES, CONGENITAL; NEUROMUSCULAR JUNCTION; NUCLEOTIDYLTRANSFERASES; TRANSFECTION; YOUNG ADULT;

EID: 84940767968     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awv185     Document Type: Article

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