Marked phenotypic variability in two siblings with congenital myasthenic syndrome due to mutations in MUSK

Journal of Neurology

Volumn 260, Issue 11, 2013, Pages 2894-2896

  Maggi, Lorenzo ^a   Brugnoni, R ^a   Scaioli, V ^a   Winden, T L ^b   Morandi, L ^a   Engel, A G ^c   Mantegazza, R ^a   Bernasconi, P ^a  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

^b Prevention Genetics   (United States)

^c MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

3,4 DIAMINOPYRIDINE; PYRIDOSTIGMINE;

ADULT; BULBAR PARALYSIS; CASE REPORT; CONGENITAL MYASTHENIC SYNDROME; DRUG WITHDRAWAL; DYSPHAGIA; DYSPNEA; ELECTROMYOGRAM; FATIGUE; FEMALE; GENE MUTATION; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; HUMAN TISSUE; LETTER; LIMB WEAKNESS; MALE; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSK GENE; OPHTHALMOPLEGIA; PHENOTYPE; PRIORITY JOURNAL; PTOSIS; RESPIRATORY FAILURE; SIBLING; STRIDOR; TONGUE ATROPHY; TONGUE DISEASE; TONGUE WEAKNESS; UNSPECIFIED SIDE EFFECT;

EID: 84889602244     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-013-7118-5     Document Type: Letter

References (5)

1. Engel AG (2012) Current status of the congenital myasthenic syndromes. Neuromuscul Disord 22:99-111
2. Chevassier F, Faraut B, Ravel-Chapuis A et al (2004) MUSK, a new target for mutations causing congenital myasthenic syndrome. Hum Mol Genet 13:3229-3240
3. Mihaylova V, Salih MA, Mukhtar MM et al (2009) Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes. Neurology 73:1926-1928
4. Maselli RA, Arredondo J, Cagney O et al (2010) Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction. Hum Mol Genet 19:2370-2379
5. Ben Ammar A, Soltanzadeh P, Bauché S et al (2013) A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia. PLoS One 8:e53826