A novel mutation in DNAJB6, p.(Phe91Leu), in childhood-onset LGMD1D with a severe phenotype

Highlights • We identified in a family with myopathy a novel c.271T > C (p.(Phe91Leu)) mutation in DNAJB6. • We made the diagnosis of LGMD1D in the affected family members. • This mutation presents unique clinical and radiological features versus other DNAJB6 mutants.

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Bibliographic Details
Published in:Neuromuscular disorders : NMD 2015-11, Vol.25 (11), p.843-851
Main Authors: Nam, Tai-Seung, Li, Wenting, Heo, Suk-Hee, Lee, Kyung-Hwa, Cho, Anna, Shin, Jin-Hong, Kim, Young Ok, Chae, Jong-Hee, Kim, Dae-Seong, Kim, Myeong-Kyu, Choi, Seok-Yong
Format: Article
Language:English
Subjects:
Adult
Age of Onset
Animals
Animals, Genetically Modified
Asian Continental Ancestry Group
Child
Diagnosis, Differential
DNAJB6
Family
Female
HSP40 Heat-Shock Proteins - genetics
HSP40 Heat-Shock Proteins - metabolism
Human genetics
Humans
Limb-girdle muscular dystrophy
Magnetic resonance imaging
Male
Middle Aged
Molecular Chaperones - genetics
Molecular Chaperones - metabolism
Muscle, Skeletal - pathology
Muscle, Skeletal - physiopathology
Muscular Dystrophies, Limb-Girdle - diagnosis
Muscular Dystrophies, Limb-Girdle - genetics
Muscular Dystrophies, Limb-Girdle - pathology
Muscular Dystrophies, Limb-Girdle - physiopathology
Mutation, Missense
Nerve Tissue Proteins - genetics
Nerve Tissue Proteins - metabolism
Neurology
Phenotype
Sequence Homology, Amino Acid
Severity of Illness Index
Zebrafish
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Description
Summary:Highlights • We identified in a family with myopathy a novel c.271T > C (p.(Phe91Leu)) mutation in DNAJB6. • We made the diagnosis of LGMD1D in the affected family members. • This mutation presents unique clinical and radiological features versus other DNAJB6 mutants.
ISSN:0960-8966
1873-2364
DOI:10.1016/j.nmd.2015.08.002