Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations [2]

Clinical Genetics

Volumn 72, Issue 1, 2007, Pages 63-65

  Maselli, Ricardo A ^a   Dris, H ^a   Schnier, J ^a   Cockrell, J L ^b   Wollmann, C L ^c  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b LEGACY EMANUEL HOSPITAL   (United States)

^c UNIVERSITY OF CHICAGO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GREEN FLUORESCENT PROTEIN; RAPSYN; RED FLUORESCENT PROTEIN;

ARTIFICIAL VENTILATION; CASE REPORT; CONGENITAL MYASTHENIC SYNDROME; CONTROLLED STUDY; ELECTROMYOGRAM; FEMALE; GENE CLUSTER; GENE LOCATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC CONSERVATION; GENETIC TRANSFECTION; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; LETTER; MINIATURE ENDPLATE POTENTIAL; MUSCLE BIOPSY; MUSCLE HYPOTONIA; NERVE STIMULATION; PATHOGENESIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN STRUCTURE; STATISTICAL SIGNIFICANCE; TUBE FEEDING; WILD TYPE;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; CELL LINE; EXONS; FEMALE; GENES, RECESSIVE; GREEN FLUORESCENT PROTEINS; HETEROZYGOTE; HUMANS; INFANT; MALE; MUSCLE PROTEINS; MYASTHENIC SYNDROMES, CONGENITAL; PEDIGREE; POINT MUTATION; RECEPTORS, NICOTINIC; RECOMBINANT FUSION PROTEINS; TRANSFECTION;

EID: 34347355502     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2007.00824.x     Document Type: Letter

References (8)

1. Ohno K, Engel AG, Shen X-M et al. Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome. Am J Hum Genet 2002: 70 (4): 875-885.
2. Burke G, Cossins J, Maxwell S et al. Rapsyn mutations in hereditary myasthenia: Distinct early- and late-onset phenotypes. Neurology 2003: 61: 826-828.
3. Maselli RA, Dunne V, Pascual-Pascual SI et al. Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering. Muscle Nerve 2003: 28 (3): 293-301.
4. Muller JS, Abicht A, Christen HJ et al. A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome. Neuromuscul Disord 2004: 14 (11): 744-749.
5. Richard P, Gaudon K, Andreux F et al. Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes. J Med Genet 2003: 40: e81.
6. Ohno K, Sadeh M, Blatt I et al. E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome. Hum Mol Genet 2003: 12 (7): 739-748.
7. Muller JS, Baumeister SK, Rasic VM et al. Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations. Neurology 2006: 67 (7): 1159-1164.
8. Ramarao MK, Bianchetta MJ, Lanken J et al. Role of rapsyn tetratricopeptide repeat and coiled-coil domains in self-association and nicotinic acetylcholine receptor clustering. J Biol Chem 2001: 276 (10): 7475-7483.