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

PH, Jonson; J, Palmio; M, Johari; S, Penttilä; A, Evilä; I, Nelson; G, Bonne; N, Wiart; V, Meyer; A, Boland; JF, Deleuze; C, Masson; T, Stojkovic; F, Chapon; NB, Romero; G, Solé; X, Ferrer; A, Ferreiro; P, Hackman; I, Richard; B, Udd

doi:10.1111/ene.13598

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

Shared by NobleBlocks on Mar 30, 2018 • 12:00 AM UTC

Authors:

Jonson PH

Palmio J

Johari M

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 mut...

Subject

Neuromuscular diseases

Genetic And Inherited Disorders

Myopathies

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