Unusual features in a boy with the rapsyn N88K mutation

Neurology

Volumn 67, Issue 12, 2006, Pages 2262-2263

  Skeie, G O ^a   Aurlien, H ^a   Muller J S ^b   Lochmuller H ^b   Norgard G ^a   Bindoff, L A ^a  

^a HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^b LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

RAPSYN;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CLINICAL FEATURE; GENE MUTATION; HUMAN; HUMAN TISSUE; LABORATORY TEST; MALE; MUSCLE BIOPSY; NEUROLOGIC EXAMINATION; NEUROMUSCULAR JUNCTION DISORDER; PRIORITY JOURNAL;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DIPLOPIA; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUSCLE PROTEINS; MUSCLE WEAKNESS; MUTATION;

EID: 33845951308     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000249184.09369.c2     Document Type: Article

References (6)

1. Ryan MM, Taylor P, Donald JA, et al. A novel syndrome of episodic muscle weakness maps to xp22.3. Am J Hum Genet 1999;65:1104-1113.
2. 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;70:875-885.
3. Burke G, Cossins J, Maxwell S, et al. Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes. Neurology 2003;61:826-828.
4. Burke G, Cossins J, Maxwell S, et al. Distinct phenotypes of congenital acetylcholine receptor deficiency. Neuromuscul Disord 2004;14:356-364.
5. Muller JS, Mildner G, Muller-Felber W, et al. Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients. Neurology 2003;60:1805-1810.
6. Beeson D, Hantai D, Lochmuller H, Engel AG. 126th International Workshop: congenital myasthenic syndromes, 24-26 September 2004, Naarden, the Netherlands. Neuromuscul Disord 2005;15:498-512.