'Pathognomonic' muscle imaging findings in DNAJB6 mutated LGMD1D

Enzo Ricci; Giorgio Tasca; S. M. Sandell; I. Mahjneh; J. Palmio; G. Tasca; B. A. Udd

doi:10.1111/ene.12239

'Pathognomonic' muscle imaging findings in DNAJB6 mutated LGMD1D

Enzo Ricci, Giorgio Tasca, S. M. Sandell, I. Mahjneh, J. Palmio, G. Tasca, B. A. Udd

Risultato della ricerca: Contributo in rivista › Articolo in rivista

27 Citazioni (Scopus)

Abstract

We have previously reported clinical, genetic and molecular pathomechanistic findings in DNAJB6 mutated LGMD1D. After publishing clinical findings of the original Finnish family we identified more Finnish, Italian and US families with the same disease, ultimately confirmed by mutations in the same gene.

Lingua originale	English
pagine (da-a)	1553-1559
Numero di pagine	7
Rivista	EUROPEAN JOURNAL OF NEUROLOGY
Volume	20
DOI	https://doi.org/10.1111/ene.12239
Stato di pubblicazione	Pubblicato - 2013

Keywords

Adult
Aged
DNAJB6 myopathy
Female
Finland
HSP40 Heat-Shock Proteins
Humans
LGMD
LGMD1D
Magnetic Resonance Imaging
Male
Middle Aged
Molecular Chaperones
Muscle, Skeletal
Muscular Dystrophies, Limb-Girdle
Nerve Tissue Proteins
Pedigree
autosomal dominant LGMD
limb-girdle muscular dystrophy

Accesso al documento

10.1111/ene.12239

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Cita questo

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title = "'Pathognomonic' muscle imaging findings in DNAJB6 mutated LGMD1D",

abstract = "We have previously reported clinical, genetic and molecular pathomechanistic findings in DNAJB6 mutated LGMD1D. After publishing clinical findings of the original Finnish family we identified more Finnish, Italian and US families with the same disease, ultimately confirmed by mutations in the same gene.",

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AU - Ricci, Enzo

AU - Tasca, Giorgio

AU - Sandell, S. M.

AU - Mahjneh, I.

AU - Palmio, J.

AU - Tasca, G.

AU - Udd, B. A.

PY - 2013

Y1 - 2013

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KW - Aged

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KW - Middle Aged

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KW - Muscle, Skeletal

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KW - Nerve Tissue Proteins

KW - Pedigree

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KW - autosomal dominant LGMD

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