'Pathognomonic' muscle imaging findings in DNAJB6 mutated LGMD1D

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

doi:10.1111/ene.12239

'Pathognomonic' muscle imaging findings in DNAJB6 mutated LGMD1D

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

Seinajoki Central Hospital
Pietarsaari Hospital
Tampere University
IRCCS Fondazione Don Carlo Gnocchi - Milano

Risultato della ricerca: Contributo in rivista › Articolo

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	Inglese
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

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10.1111/ene.12239

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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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author = "Sandell, \{S. M.\} and I. Mahjneh and J. Palmio and G. Tasca and Giorgio Tasca and Enzo Ricci and Udd, \{B. A.\}",

year = "2013",

doi = "10.1111/ene.12239",

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journal = "European Journal of Neurology",

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T1 - 'Pathognomonic' muscle imaging findings in DNAJB6 mutated LGMD1D

AU - Sandell, S. M.

AU - Mahjneh, I.

AU - Palmio, J.

AU - Tasca, G.

AU - Tasca, Giorgio

AU - Ricci, Enzo

AU - Udd, B. A.

PY - 2013

Y1 - 2013

N2 - 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.

AB - 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.

KW - Adult

KW - Aged

KW - DNAJB6 myopathy

KW - Female

KW - Finland

KW - HSP40 Heat-Shock Proteins

KW - Humans

KW - LGMD

KW - LGMD1D

KW - Magnetic Resonance Imaging

KW - Male

KW - Middle Aged

KW - Molecular Chaperones

KW - Muscle, Skeletal

KW - Muscular Dystrophies, Limb-Girdle

KW - Nerve Tissue Proteins

KW - Pedigree

KW - autosomal dominant LGMD

KW - limb-girdle muscular dystrophy

KW - Adult

KW - Aged

KW - DNAJB6 myopathy

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KW - HSP40 Heat-Shock Proteins

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KW - Magnetic Resonance Imaging

KW - Male

KW - Middle Aged

KW - Molecular Chaperones

KW - Muscle, Skeletal

KW - Muscular Dystrophies, Limb-Girdle

KW - Nerve Tissue Proteins

KW - Pedigree

KW - autosomal dominant LGMD

KW - limb-girdle muscular dystrophy

UR - http://hdl.handle.net/10807/60865

U2 - 10.1111/ene.12239

DO - 10.1111/ene.12239

M3 - Article

SN - 1468-1331

VL - 20

SP - 1553

EP - 1559

JO - European Journal of Neurology

JF - European Journal of Neurology

ER -

'Pathognomonic' muscle imaging findings in DNAJB6 mutated LGMD1D

Abstract

Keywords

Accesso al documento

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