Novel COLQ mutation 950delC in synaptic congenital myasthenic syndrome and symptomatic heterozygous relatives

Neuromuscular Disorders

Volumn 17, Issue 3, 2007, Pages 262-265

  Schreiner, Felix ^a   Hoppenz, Marc ^a   Klaeren, Ruth ^a   Reimann, Jens ^a   Woelfle, Joachim ^a  

^a UNIVERSITY OF BONN   (Germany)

Author keywords

COLQ; Congenital myasthenic syndrome; Heterozygosity

Indexed keywords

ACETYLCHOLINESTERASE; CHOLINERGIC RECEPTOR; DNA; EDROPHONIUM;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CHILD; COLQ GENE; CONGENITAL MYASTHENIC SYNDROME; DNA SEQUENCE; ENZYME DEFICIENCY; FEMALE; GENE; GENE MUTATION; HETEROZYGOSITY; HISTOLOGY; HUMAN; HUMAN TISSUE; MALE; MUSCLE ACTION POTENTIAL; MYASTHENIA; NEUROMUSCULAR TRANSMISSION; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PTOSIS;

ACETYLCHOLINESTERASE; CHILD; CHILD, PRESCHOOL; COLLAGEN; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENE DELETION; HUMANS; MALE; MUSCLE PROTEINS; MYASTHENIC SYNDROMES, CONGENITAL;

EID: 33947147849     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2006.11.010     Document Type: Article

References (11)

1. Donger C., Krejci E., Serradell A.P., et al. Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with endplate acetylcholinesterase deficiency (Type Ic). Am J Hum Genet 63 (1998) 967-975
2. Ohno K., Brengman J., Tsujino A., and Engel A.G. Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme. Proc Natl Acad Sci USA 95 (1998) 9654-9659
3. Engel A.G., Lambert E.H., and Gomez M.R. A new myasthenic syndrome with endplate acetylcholinesterase deficiency, small nerve terminals, and reduced acetylcholine release. Ann Neurol 1 (1977) 315-330
4. Hutchinson D.O., Walls T.J., Nakano S., et al. Congenital endplate acetylcholinesterase deficiency. Brain 116 (1993) 633-653
5. Kohara N., Lin T.S., Fukudome T., et al. Pathophysiology of weakness in a patient with congenital endplate acetylcholinesterase deficiency. Muscle Nerve 25 (2002) 585-592
6. Ohno K., and Engel A.G. Congenital myasthenic syndromes: gene mutations. Neuromuscul Disord 14 (2004) 117-122
7. Muller J.S., Petrova S., Kiefer R., et al. Synaptic congenital myasthenic syndrome in three patients due to a novel missense mutation (T441A) of the COLQ gene. Neuropediatrics 35 (2004) 183-189
8. Ishigaki K., Nicolle D., Krejci E., et al. Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency. Neuromuscul Disord 13 (2003) 236-244
9. Pestronk A., and Drachmann D.B. A new stain for quantitative measurements of sprouting at neuromuscular junctions. Muscle Nerve 1 (1978) 70-74
10. Ohno K., Engel A.G., Brengman J.M., et al. The spectrum of mutations causing endplate acetylcholinesterase deficiency. Ann Neurol 47 (2000) 162-170
11. Shapira Y.A., Sadeh M.E., Bergtraum M.P., et al. Three novel COLQ mutations and variation of phenotypic expressivity due to G240X. Neurology 58 (2002) 603-609