Details

Autor(en) / Beteiligte

• Di Blasi, Claudia
• Mora, Marina
• Pareyson, Davide
• Farina, Laura
• Sghirlanzoni, Angelo
• Vignier, Nicolas
• Blasevich, Flavia
• Cornelio, Ferdinando
• Guicheney, Pascale
• Morandi, Lucia

Titel

Partial laminin α2 chain deficiency in a patient with myopathy resembling inclusion body myositis

Ist Teil von

• Annals of neurology, 2000-06, Vol.47 (6), p.811-816

Ort / Verlag

New York: John Wiley & Sons, Inc

Erscheinungsjahr

2000

Quelle

Access via Wiley Online Library

Beschreibungen/Notizen

• It is becoming evident that clinical phenotypes associated with partial laminin α2 chain deficiency are variable. We recently observed a 29‐year‐old man with leukoencephalopathy and vacuolar myopathy resembling inclusion body myositis. Laminin α2 immunohistochemical analysis showed reduction of the protein on muscle fiber surfaces. Molecular analysis revealed two novel compound heterozygous mutations in the LAMA2 gene. This is the first report linking a mutation in the LAMA2 gene with leukoencephalopathy and inclusion body‐like myositis. Ann Neurol 2000;47:811–816