Pathology of frontotemporal dementia with limb girdle muscular dystrophy caused by a DNAJB6 mutation.
نویسندگان
چکیده
Title Pathology of frontotemporal dementia with limb girdle muscular dystrophy caused by a DNAJB6 mutation Author(s) Yabe, Ichiro; Tanino, Mishie; Yaguchi, Hiroaki; Takiyama, Akihiro; Cai, Huaying; Kanno, Hiromi; Takahashi, Ikuko; Hayashi, Yukiko K.; Watanabe, Masashi; Takahashi, Hidehisa; Hatakeyama, Shigetsugu; Tanak, Shinya; Sasaki, Hidenao Citation Clinical neurology and neurosurgery, 127: 10-12 Issue Date 2014-12 Doc URL http://hdl.handle.net/2115/57945 Type article (author version)
منابع مشابه
Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophy.
Limb-girdle muscular dystrophy primarily affects the muscles of the hips and shoulders (the "limb-girdle" muscles), although it is a heterogeneous disorder that can present with varying symptoms. There is currently no cure. We sought to identify the genetic basis of limb-girdle muscular dystrophy type 1 in an American family of Northern European descent using exome sequencing. Exome sequencing ...
متن کاملDNAJB6 Myopathies: Focused Review on an Emerging and Expanding Group of Myopathies
Mutations in the DNAJB6 gene have been associated with the autosomal dominant limb girdle muscular dystrophy type 1D (LGMD1D), a disorder characterized by abnormal protein aggregates and rimmed vacuoles in muscle fibers. DNAJB6 is a ubiquitously expressed Hsp40 co-chaperone characterized by a J domain that specifies Hsp70 functions in the cellular environment. DNAJB6 is also a potent inhibitor ...
متن کاملCharacteristic Posterior-dominant Lower Limb Muscle Involvement in Limb-girdle Muscular Dystrophy due to a DNAJB6 Phe93Leu Mutation
A 41-year-old man presented with gradually progressing proximal-dominant lower limb atrophy and weakness. His brother, mother and maternal aunt had the same symptoms. A physical examination and muscle imaging (CT and ultrasound) showed selective muscle involvement of the bilateral paraspinal, gluteus and posterior groups of lower limb muscles. Based on the characteristic muscle involvement patt...
متن کاملEmerging roles and underlying molecular mechanisms of DNAJB6 in cancer
DNAJB6 also known as mammalian relative of DnaJ (MRJ) encodes a highly conserved member of the DnaJ/Hsp40 family of co-chaperone proteins that function with Hsp70 chaperones. DNAJB6 is widely expressed in all tissues, with higher expression levels detected in the brain. DNAJB6 is involved in diverse cellular functions ranging from murine placental development, reducing the formation and toxicit...
متن کاملNovel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease.
DNAJB6 is the causative gene for limb-girdle muscular dystrophy 1D (LGMD1D). Four different coding missense mutations, p.F89I, p.F93I, p.F93L, and p.P96R, have been reported in families from Europe, North America and Asia. The previously known mutations cause mainly adult-onset proximal muscle weakness with moderate progression and without respiratory involvement. A Finnish family and a British...
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ورودعنوان ژورنال:
- Clinical neurology and neurosurgery
دوره 127 شماره
صفحات -
تاریخ انتشار 2014