TPM3 mutation in one of the original cases of cap disease

Neurology

Volumn 72, Issue 22, 2009, Pages 1961-1963

  Ohlsson, Monica ^a   Fidzianska, Anna ^b   Tajsharghi, Homa ^a   Oldfors, Anders ^a  

^a SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

^b MOSSAKOWSKI MEDICAL RESEARCH CENTRE   (Poland)

Author keywords

[No Author keywords available]

Indexed keywords

CONTRACTILE PROTEIN; PROTEIN TPM3; UNCLASSIFIED DRUG;

ADULT; ANAMNESIS; ARTICLE; ARTIFICIAL VENTILATION; CAP DISEASE; CASE REPORT; ELECTROMYOGRAPHY; FACE DYSMORPHIA; FEMALE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; KYPHOSCOLIOSIS; MISSENSE MUTATION; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; MYOPATHY; PRIORITY JOURNAL;

EID: 67650034772     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3181a82659     Document Type: Article

References (7)

1. Wingerchuk DM, Lennon VA, Lucchinetti CF, Pittock SJ, Weinshenker BG. The spectrum of neuromyelitis optica. Lancet Neurol 2007;6:805-815.
2. Takahashi T, Fujihara K, Nakashima I, et al. Antiaquaporin-4 antibody is involved in the pathogenesis of NMO: a study on antibody titre. Brain 2007;130:1235-1243.
3. Misu T, Fujihara K, Nakamura M, et al. Loss of aquaporin-4 in active perivascular lesions in neuromyelitis optica: a case report. Tohoku J Exp Med 2006;209:269-275.
4. Roemer SF, Parisi JE, Lennon VA, et al. Pattern-specific loss of aquaporin-4 immunoreactivity distinguishes neuromyelitis optica from multiple sclerosis. Brain 2007;130: 1194-1205.
5. Misu T, Fujihara K, Kakita A, et al. Loss of aquaporin 4 in lesions of neuromyelitis optica: distinction from multiple sclerosis. Brain 2007;130:1224-1234.
6. Vincent T, Saikali P, Cayrol R, et al. Functional consequences of neuromyelitis optica-IgG astrocyte interactions on blood-brain barrier permeability and granulocyte recruitment. J Immunol 2008;181:5730-5737.
7. Hinson SR, Roemer SF, Lucchinetti CF, et al. Aquaporin-4-binding autoantibodies in patients with neuromyelitis optica impair glutamate transport by down-regulating EAAT2. J Exp Med 2008;205:2473-2481.