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Partial laminin α2 chain deficiency in a patient with myopathy resembling inclusion body myositis
Author(s) -
Di Blasi Claudia,
Mora Marina,
Pareyson Davide,
Farina Laura,
Sghirlanzoni Angelo,
Vignier Nicolas,
Blasevich Flavia,
Cornelio Ferdinando,
Guicheney Pascale,
Morandi Lucia
Publication year - 2000
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/1531-8249(200006)47:6<811::aid-ana16>3.0.co;2-9
Subject(s) - inclusion body myositis , laminin , myopathy , myositis , leukoencephalopathy , phenotype , pathology , mutation , medicine , gene , biology , genetics , extracellular matrix , disease
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