Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 84, Issue 10, 2013, Pages 1119-1125

  Finlayson, Sarah ^a,b   Palace, Jacqueline ^b   Belaya, Katsiaryna ^a   Walls, Timothy J ^c   Norwood, Fiona ^d   Burke, Georgina ^e   Holton, Janice L ^f   Pascual Pascual, Samuel I ^g   Cossins, Judith ^a   Beeson, David ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^c NEWCASTLE GENERAL HOSPITAL   (United Kingdom)

^d KING'S COLLEGE HOSPITAL NHS FOUNDATION TRUST   (United Kingdom)

^e SOUTHAMPTON GENERAL HOSPITAL   (United Kingdom)

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

^g HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

3,4 DIAMINOPYRIDINE; PYRIDOSTIGMINE; SALBUTAMOL;

ADULT; ARTICLE; BIOCHEMISTRY; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL MYASTHENIC SYNDROME; CONTROLLED STUDY; DISEASE COURSE; DPAGT1 GENE; DRUG TOLERABILITY; DYSPHAGIA; DYSPNEA; FACE WEAKNESS; FEMALE; FLEXION CONTRACTURE; GENE; GENE MUTATION; HUMAN; HUMAN TISSUE; LEARNING DISORDER; LIMB WEAKNESS; MALE; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE WEAKNESS; MYASTHENIA GRAVIS; NASAL SPEECH; NERVE STIMULATION; NEUROPHYSIOLOGY; PATHOPHYSIOLOGY; PES CAVUS; PRIORITY JOURNAL; PROTEIN GLYCOSYLATION; PTOSIS; REPETITIVE NERVE STIMULATION; SCHOOL CHILD; SCOLIOSIS; SIDE EFFECT; SLURRED SPEECH; TREATMENT RESPONSE; UNSPECIFIED SIDE EFFECT;

EID: 84884596234     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp-2012-304716     Document Type: Article

References (28)

1. Engel AG. Current status of the congenital myasthenic syndromes. Neuromuscul Disord 2012; 22: 99-111.
2. Abicht A, Dusl M, Gallenmüller C, et al. Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients. Hum Mutat 2012; 33: 1474-84.
3. Chaouch A, Beeson D, Hantaï D, et al. 186th ENMC international workshop: congenital myasthenic syndromes 24-26 June 2011, Naarden, The Netherlands. Neuromuscul Disord 2012; 22: 566-76.
4. Palace J, Beeson D. The congenital myasthenic syndromes. J Neuroimmunol 2008; 201-202: 2-5.
5. 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.
6. Zhu XY, Lehrman MA. Cloning, sequence, and expression of a cDNA encoding hamster UDP-GlcNAc:dolichol phosphate N-acetylglucosamine-1-phosphate transferase. J Biol Chem 1990; 265: 14250-5.
7. Bretthauer RK. Structure, expression, and regulation of UDP-GlcNAc: dolichol phosphate GlcNAc-1-phosphate transferase (DPAGT1). Curr Drug Targets 2009; 10: 477-82.
8. Wu X, Rush JS, Karaoglu D, et al. Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij. Hum Mutat 2003; 22: 144-50. (Pubitemid 36950812)
9. Würde AE, Reunert J, Rust S, et al. Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): extending the clinical and molecular spectrum of a rare disease. Mol Genet Metab 2012; 105: 634-41.
10. Timal S, Hoischen A, Lehle L, et al. Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. Hum Mol Genet 2012; 21: 4151-61.
11. Carrera IA, Matthijs G, Perez B, et al. DPAGT1-CDG: report of a patient with fetal hypokinesia phenotype. Am J Med Genet A 2012; 158A: 2027-30.
12. Imtiaz F, Al-Mostafa A, Al-Hassnan ZN. Further delineation of the phenotype of congenital disorder of glycosylation DPAGT1-CGD (CDG-Ij) identified by homozygosity mapping. JIMD Reports 2012; 2: 107-11.
13. Iqbal Z, Shahzad M, Vissers LELM, et al. A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype. Eur J Hum Genet. Published Online First: December 2012. doi: 10.1038/ejhg.2012.257
14. Marklová E, Albahri Z. Screening and diagnosis of congenital disorders of glycosylation. Clinica Chimica Acta 2007; 385: 6-20. (Pubitemid 47374669)
15. Senderek J, Müller JS, Dusl M, et al. Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect. Am J Hum Genet 2011; 88: 162-72.
16. Guergueltcheva V, Müller JS, Dusl M, et al. Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations. J Neurol. Published Online First: 6 October 2011. doi: 10.1007/s00415-011-6262-z
17. Liewluck T, Selcen D, Engel AG. Beneficial effects of albuterol in congenital endplate acetylcholinesterase deficiency and Dok-7 myasthenia. Muscle Nerve 2011; 44: 789-94.
18. Mahjneh I, Lochmüller H, Muntoni F, et al. DOK7 limb-girdle myasthenic syndrome mimicking congenital muscular dystrophy. Neuromuscul Disord 2013; 23: 36-42.
19. Cossins J, Liu WW, Belaya K, et al. The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome. Hum Mol Genet 2012; 21: 3765-75.
20. Lashley D, Palace J, Jayawant S, et al. Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7. Neurology 2010; 74: 1517-23.
21. Mihaylova V, Müller JS, Vilchez JJ, et al. Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes. Brain 2008; 131: 747-59. (Pubitemid 351294715)
22. Schiaffino S. Tubular aggregates in skeletal muscle: just a special type of protein aggregates? Neuromuscul. Disord 2012; 22: 199-207.
23. Niakan E, Harati Y, Danon MJ. Tubular aggregates: their association with myalgia. J Neurol Neurosurg Psychiatry 1985; 48: 882-6. (Pubitemid 15021653)
24. Engel WK, Bishop DW, Cunningham GG. Tubular aggregates in type II muscle fibers: ultrastructural and histochemical correlation. J Ultrastruct Res 1970; 31: 507-25.
25. Rosenberg NL, Neville HE, Ringel SP. Tubular aggregates. Their association with neuromuscular diseases, including the syndrome of myalgias/cramps. Arch Neurol 1985; 42: 973-6. (Pubitemid 16248049)
26. Pavlovicová M, Novotová M, Zahradník I. Structure and composition of tubular aggregates of skeletal muscle fibres. Gen Physiol Biophys 2003; 22: 425-40. (Pubitemid 38324662)
27. Vuillaumier-Barrot S. Diagnostic moléculaire des anomalies congénitales de la glycosylation. Annales de Biologie Clinique 2005; 63: 135-43. (Pubitemid 40428452)
28. Pérez-Cerdá C, Quelhas D, Vega AI, et al. Screening using serum percentage of carbohydrate-deficient transferrin for congenital disorders of glycosylation in children with suspected metabolic disease. Clin Chem 2008; 54: 93-100. (Pubitemid 351182601)