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Mutations in the J domain of DNAJB6 cause dominant distal myopathy
Johanna Palmio
, Per Harald Jonson
, Michio Inoue
, Jaakko Sarparanta
, Rocio Bengoechea
, Marco Savarese
, Anna Vihola
, Manu Jokela
, Masanori Nakagawa
, Satoru Noguchi
, Montse Olivé
, Marion Masingue
, Emilia Kerty
, Peter Hackman
,
Conrad C. Weihl
, Ichizo Nishino
, Bjarne Udd
Center of Regenerative Medicine
Roy and Diana Vagelos Division of Biology & Biomedical Sciences (DBBS)
Institute of Clinical and Translational Sciences (ICTS)
Section of Neuromuscular Medicine
Department of Neurology
DBBS - Molecular Cell Biology
DBBS - Neurosciences
Hope Center for Neurological Disorders
Research output
:
Contribution to journal
›
Article
›
peer-review
30
Scopus citations
Overview
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Keyphrases
Distal Myopathy
100%
DNAJB6
100%
J-domain
100%
Myopathy
50%
F-box Domain
50%
Novel mutation
33%
Proximo-distal
33%
Phenylalanine
16%
Glycine
16%
Pathogenic mutations
16%
Molecular Genetic Testing
16%
Research Biopsy
16%
Pathological Findings
16%
TAR DNA-binding Protein 43 (TDP-43)
16%
Calves
16%
Targeted Sequencing
16%
Muscle Involvement
16%
Cause of Disease
16%
Sanger Sequencing
16%
Affected Family Members
16%
Close Proximity
16%
Muscle Biopsy
16%
Disaggregation
16%
Aggregation Ability
16%
Anti-aggregation
16%
Filter Trap Assay
16%
Biochemistry, Genetics and Molecular Biology
Transactive Response Dna Binding Protein-43
100%
Molecular Genetics
100%
Dideoxynucleotide Sequencing
100%
Phenylalanine
100%
Neuroscience
Muscle Disorder
100%
Phenylalanine
14%
Dideoxynucleotide Sequencing
14%