Novel mutations in <i>DNAJB6</i> cause <scp>LGMD</scp>1D and distal myopathy in French families

Harald Jonson, Per; Palmio, Johanna; Johari, Mridul; Penttilä, S.; Evilä, Anni; Nelson, Isabelle; Bonne, Gisèle; Wiart, Nicolas; Meyer, Vincent; Boland, A.; F. Deleuze, Jean; Masson, C.; Stojkovic, Tanya; Chapon, Françoise; B. Romero, Norma; Maria Sole, Gaglianò; Ferrer, Xavier; Ferreiro, Ana; Hackman, Peter; Richard, I.; Udd, Bjarne

doi:10.1111/ene.13598

Public

Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families

Published in European Journal of Neurology • Feb 13, 2018

Authors:

Per Harald Jonson

Johanna Palmio

Mridul Johari

Abstract

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 ...

Subject

Myopathy

Muscular dystrophy

Limb-girdle muscular dystrophy

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