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

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

Auteurs : Claudia Di Blasi [Italie] ; Marina Mora [Italie] ; Davide Pareyson [Italie] ; Laura Farina [Italie] ; Angelo Sghirlanzoni [Italie] ; Nicolas Vignier [France] ; Flavia Blasevich [Italie] ; Ferdinando Cornelio [Italie] ; Pascale Guicheney [France] ; Lucia Morandi [Italie]

Source :

Annals of Neurology [ 0364-5134 ] ; 2000-06.

RBID : ISTEX:1193854B6CC582FD0420825E948FB90CAD42B47A

Abstract

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

Url:

https://api.istex.fr/document/1193854B6CC582FD0420825E948FB90CAD42B47A/fulltext/pdf

DOI: 10.1002/1531-8249(200006)47:6<811::AID-ANA16>3.0.CO;2-9

Affiliations:

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Le document en format XML

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<front><div type="abstract" xml:lang="en">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</div>
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	La maladie de Parkinson en France (serveur d'exploration)
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La maladie de Parkinson en France (serveur d'exploration)

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

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

Source :

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri