Eosinophilic infiltration related to CAPN3 mutations: A pathophysiological component of primary calpainopathy?

Clinical Genetics

Volumn 80, Issue 4, 2011, Pages 398-402

  Krahn, M ^a,b   Goicoechea, M ^c   Hanisch, F ^d,e   Groen, E ^e   Bartoli, M ^b   Pecheux C ^a   Garcia Bragado, F ^f   Leturcq, F ^g   Jeannet, P Y ^h   Lobrinus, J A ⁱ   Jacquemont, S ^h   Strober, J ^j   Urtizberea, J A ^k   Saenz, A ^c   Bushby, K ^e   Levy N ^a,b   Lopez de Munain, A ^c  

^a TIMONE HOSPITAL   (France)

^b AIX MARSEILLE UNIVERSITY   (France)

^c HOSPITAL DONOSTIA   (Spain)

^d MARTIN LUTHER UNIVERSITY HALLE WITTENBERG   (Germany)

^e NEWCASTLE UNIVERSITY   (United Kingdom)

^f Universidad Pública de Navarra   (Spain)

^g Hôpital Cochin ^*  (France)

^h LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

ⁱ UNIVERSITY INSTITUTE OF PATHOLOGY   (Switzerland)

^j UNIVERSITY OF CALIFORNIA   (United States)

^k ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

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Author keywords

[No Author keywords available]

Indexed keywords

CALPAIN 3;

CELL INFILTRATION; EOSINOPHIL; EOSINOPHIL COUNT; EOSINOPHIL MYOSITIS; GENE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; IMMUNOHISTOCHEMISTRY; LETTER; LIMB GIRDLE MUSCULAR DYSTROPHY; MUSCLE BIOPSY; MUSCLE WEAKNESS; MYOSITIS; PATHOPHYSIOLOGY; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ADULT; CALPAIN; CHILD; CHILD, PRESCHOOL; EOSINOPHILIA; EOSINOPHILS; FEMALE; HUMANS; MALE; MUSCLE PROTEINS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION; MYOSITIS;

EID: 80052623697     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01620.x     Document Type: Letter

References (6)

1. Richard I, Broux O, Allamand V et al. Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. Cell 1995: 81: 27-40.
2. Krahn M, Lopez de Munain A, Streichenberger N et al. CAPN3 mutations in patients with idiopathic eosinophilic myositis. Ann Neurol 2006: 59: 905-911.
3. Amato AA. Adults with eosinophilic myositis and calpain-3 mutations. Neurology 2008: 70: 730-731.
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6. Baumeister SK, Todorovic S, Milic-Rasic V, Dekomien G, Lochmüller H, Walter MC. Eosinophilic myositis as presenting symptom in gamma-sarcoglycanopathy. Neuromuscul Disord 2009: 19: 167-171.