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Muscular Dystrophy, Limb-Girdle, Type 1D

Known as: LGMD1D 
National Institutes of Health

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Muscular Dystrophies, Limb-Girdle

Papers overview

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2020
2020
Intrafamilial variability of limb-girdle muscular dystrophy, LGMD1D type.
2018
2018
Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families
The aim was to determine the genetic background of unknown muscular dystrophy in five French families. 
2016
2016
Diagnostically important muscle pathology in DNAJB6 mutated LGMD1D
Limb girdle muscular dystrophies are a large group of both dominantly and recessively inherited muscle diseases. LGMD1D is caused… 
2015
2015
A novel mutation in DNAJB6, p.(Phe91Leu), in childhood-onset LGMD1D with a severe phenotype
Highly Cited
2014
Highly Cited
2014
A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G).
Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of genetically determined muscle disorders with a primary or… 
2014
2014
DNAJB6 myopathy: A vacuolar myopathy with childhood onset
Introduction: DNAJB6 mutations cause an autosomal dominant myopathy that can manifest as limb‐girdle muscular dystrophy (LGMD1D… 
Review
2014
Review
2014
Borderlines between Sarcopenia and Mild Late-Onset Muscle Disease
Numerous natural or disease-related alterations occur in different tissues of the body with advancing age. Sarcopenia is defined… 
2013
2013
‘Pathognomonic’ muscle imaging findings in DNAJB6 mutated LGMD1D
We have previously reported clinical, genetic and molecular pathomechanistic findings in DNAJB6 mutated LGMD1D. After publishing… 
2011
2011
Four new Finnish families with LGMD1D; refinement of the clinical phenotype and the linked 7q36 locus
2010
2010
The enigma of 7q36 linked autosomal dominant limb girdle muscular dystrophy
Introduction Two families with autosomal dominant limb girdle muscular dystrophy (LGMD) have previously been linked to a locus on… 
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