Article
Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families.
European journal of neurology - 1 May 2018
Jonson P H, Palmio J, Johari M, Penttilä S, Evilä A, Nelson I, Bonne G, Wiart N, Meyer V, Boland A, Deleuze J-F, Masson C, Stojkovic T, Chapon F, Romero N B, Solé G, Ferrer X, Ferreiro A, Hackman P, Richard I, Udd B
Abstract excerpt
BACKGROUND AND PURPOSE: The aim was to determine the genetic background of unknown muscular dystrophy in five French families. METHODS: Twelve patients with limb girdle muscular dystrophy or distal myopathy were clinically evaluated. Gene mutations were identified using targeted exon sequencing and mutated DNAJB6 was tested in vitro. RESULTS: Five patients presented with distal lower limb weakness whilst others...
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