Clinical features of the myasthenic syndrome arising from mutations in GMPPB

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 87, Issue 8, 2016, Pages 802-809

  Rodríguez Cruz, Pedro M ^a,b   Belaya, Katsiaryna ^a   Basiri, Keivan ^c   Sedghi, Maryam ^d   Farrugia, Maria Elena ^e   Holton, Janice L ^f   Liu, Wei Wei ^a   Maxwell, Susan ^a   Petty, Richard ^d   Walls, Timothy J ^g   Kennett, Robin ^a   Pitt, Matthew ^h   Sarkozy, Anna ^h   Parton, Matt ^h   Lochmüller, Hanns ⁱ   Muntoni, Francesco ^j   Palace, Jacqueline ^b   Beeson, David ^a,b  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b ISFAHAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^c ISFAHAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^d QUEEN ELIZABETH UNIVERSITY HOSPITAL   (United Kingdom)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

^f NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^g ROYAL VICTORIA INFIRMARY   (United Kingdom)

^h GREAT ORMOND STREET HOSPITAL   (United Kingdom)

ⁱ NEWCASTLE UNIVERSITY   (United Kingdom)

^j UNIVERSITY COLLEGE LONDON   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA DYSTROGLYCAN; AMIFAMPRIDINE; CREATINE KINASE; ENZYME; GDP MANNOSE PYROPHOSPHORYLASE B; PYRIDOSTIGMINE; SALBUTAMOL; UNCLASSIFIED DRUG; DYSTROGLYCAN; MANNOSE 1-PHOSPHATE GUANYLYLTRANSFERASE; NUCLEOTIDYLTRANSFERASE;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COGNITIVE DEFECT; CREATINE KINASE BLOOD LEVEL; DIAGNOSTIC VALUE; FEMALE; GENE; GENE MUTATION; GLYCOSYLATION; GMPPB GENE; HUMAN; MALE; MUSCLE BIOPSY; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY; MYOPATHY; NEUROMUSCULAR JUNCTION DISORDER; NEUROMUSCULAR TRANSMISSION; NUCLEAR MAGNETIC RESONANCE IMAGING; PALLIATIVE THERAPY; PRESCHOOL CHILD; PRIORITY JOURNAL; RETROSPECTIVE STUDY; AGED; BLOOD; COMPLICATION; GENETICS; METABOLISM; MIDDLE AGED; MUTATION; MYASTHENIC SYNDROMES, CONGENITAL; PATHOPHYSIOLOGY; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; COGNITIVE DYSFUNCTION; CREATINE KINASE; DYSTROGLYCANS; FEMALE; GLYCOSYLATION; HUMANS; MALE; MIDDLE AGED; MUTATION; MYASTHENIC SYNDROMES, CONGENITAL; NUCLEOTIDYLTRANSFERASES; YOUNG ADULT;

EID: 84966430793     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp-2016-313163     Document Type: Article

References (26)

1. Palace J, Beeson D. The congenital myasthenic syndromes. J Neuroimmunol 2008;201-202:2-5.
2. Rodríguez Cruz PM, Palace J, Beeson D. Inherited disorders of the neuromuscular junction: an update. J Neurol 2014;261:2234-43.
3. Beeson D, Higuchi O, Palace J, et al. Dok-7 mutations underlie a neuromuscular junction synaptopathy. Science 2006;313:1975-8.
4. Ohno K, Engel AG, Shen XM, et al. Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome. Am J Hum Genet 2002;70:875-85.
5. Cossins J, Belaya K, Hicks D, et al. Congenital myasthenic syndromes due to mutations in ALG2 and ALG14. Brain 2013;136:944-56.
6. Belaya K, Finlayson S, Slater CR, et al. Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates. Am J Hum Genet 2012;91:193-201.
7. Zoltowska K, Webster R, Finlayson S, et al. Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR. Hum Mol Genet 2013;22:2905-13.
8. Moremen KW, Tiemeyer M, Nairn AV. Vertebrate protein glycosylation: diversity, synthesis and function. Nat Rev Mol Cell Biol 2012;13:448-62.
9. Gehle VM, Walcott EC, Nishizaki T, et al. N-glycosylation at the conserved sites ensures the expression of properly folded functional ACh receptors. Brain Res Mol Brain Res 1997;45:219-29.
10. Martin PT. Glycobiology of the neuromuscular junction. J Neurocytol 2003;32:915-29.
11. Belaya K, Rodriguez Cruz PM, Liu W. Mutations in GMPPB cause congenital myashtenic syndrome and bridge myasthenic disorders with dystroglycanopathies. Brain 2015;138:2493-504.
12. Muntoni F, Torelli S, Wells DJ, et al. Muscular dystrophies due to glycosylation defects: diagnosis and therapeutic strategies. Curr Opin Neurol 2011;24: 437-42.
13. Carss KJ, Stevens E, Foley AR, et al. Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. Am J Hum Genet 2013;93:29-41.
14. Palace J, Lashley D, Newsom-davis J, et al. Clinical features of the DOK7 neuromuscular junction synaptopathy. Brain 2007;130:1507-15.
15. Chaouch A, Müller JS, Guergueltcheva V, et al. A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome. J Neurol 2012;259:474-81.
16. Klein A, Pitt MC, McHugh JC, et al. DOK7 congenital myasthenic syndrome in childhood: early diagnostic clues in 23 children. Neuromuscul Disord 2013;23:883-91.
17. Finlayson S, Palace J, Belaya K, et al. Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1. J Neurol Neurosurg Psychiatry 2013;84:1119-25.
18. Schiaffino S. Tubular aggregates in skeletal muscle: just a special type of protein aggregates? Neuromuscul Disord 2012;22:199-207.
19. Guergueltcheva V, Müller JS, Dusl M, et al. Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations. J Neurol 2012;259: 838-50.
20. Finlayson S, Morrow JM, Rodriguez Cruz PM, et al. Muscle MRI in congenital myasthenic syndromes. Muscle Nerve 2016. Jan 20. doi:10.1002/mus.25035. [Epub ahead of print].
21. Lewis AJM, Finlayson S, Mahmod M, et al. A novel cardiac phenotype in patients with GFPT1 or DPAGT1 mutations. Exp Clin Cardiol 2014;20:3139-45.
22. Cabrera-Serrano M, Ghaoui R, Ravenscroft G, et al. Expanding the phenotype of GMPPB mutations. Brain 2015;138:836-44.
23. DianaX BG, Neil E, Wiggs E, et al. Intrafamilial variability in GMPPBassociated dystroglycanopathy: broadening the phenotype. Neurology 2015;84:1495-7.
24. Ibraghimov-Beskrovnaya O, Ervasti JM, Leveille CJ, et al. Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix. Nature 1992;355:696-702.
25. Michele DE, Barresi R, Kanagawa M, et al. Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies. Nature 2002;418:417-22.
26. Murakami T, Ishigaki K, Shirakawa S, et al. Severe muscle damage following viral infection in patients with Fukuyama congenital muscular dystrophy. Brain Dev 2012;34:293-7.