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Human Intermediate Filament Database

References for disease Emery-Dreifuss muscular dystrophy, autosomal recessive

All publications related to disease Emery-Dreifuss muscular dystrophy, autosomal recessive. To link directly to a specific first author surname click on the required letter below.

MR

M

Makri S, Clarke NF, Richard P, Maugenre S, Demay L, Bonne G, Guicheney P
Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy.
Neuromuscul Disord 2008 () - PubMed: 19084400

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R

Raffaele Di Barletta M, Ricci E, Galluzzi G, Tonali P, Mora M, Morandi L, Romorini A, Voit T, Orstavik KH, Merlini L, Trevisan C, Biancalana V, Housmanowa-Petrusewicz I, Bione S, Ricotti R, Schwartz K, Bonne G, Toniolo D
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.
Am J Hum Genet 2000 66(4) 1407-1412 PubMed: 10739764

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