Difficult Diagnosis of Myosin Heavy Chain 9 Related Platelet Disorder
نویسندگان
چکیده
منابع مشابه
Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder.
MYH9-related disease ( MYH9-RD) is an autosomal dominant thrombocytopenia with giant platelets variably associated with young-adult onset of progressive sensorineural hearing loss, presenile cataract, and renal damage. MYH9-RD is caused by mutations of MYH9 , the gene encoding for non-muscle heavy-chain myosin-9. Wild-type and mutant myosin-9 aggregate as cytoplasmic inclusions in patients' leu...
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Myosin heavy chain-9-related disorders (MYH9-RDs) are a group of autosomal-dominant disorders caused by mutations in the MYH9 gene. The features include congenital macrothrombocytopaenia, inclusion bodies in neutrophils and a variable risk of developing sensorineural deafness, progressive renal impairment and presenile cataracts. A 44-year-old Caucasian man was initially thought to have Alport'...
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In skeletal muscle, pure fibres expressing one myosin heavy chain (MyHC) isoform, and intermediate fibres, expressing two and exceptionally three MyHCs have been described. When skeletal muscle adapts its fibre type profile to changed functional demands MyHC isoform transformation follows the pathway: MyHC-1 ↔ MyHC-2a ↔ MyHC-2x/d ↔ MyHC-2b. Therefore, in hybrid fibres only successive isoforms f...
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MYH-9 related platelet disorders belong to the group of inherited giant platelet disorders. The MYH-9 gene encodes the non-muscular myosin heavy chain IIA (NMMHCIIA), a cytoskeletal contractile protein. Several mutations in the MYH-9 gene lead to macrothrombocytopenia, and cytoplasmic inclusion bodies within leukocytes, while the number of megakaryocytes in the bone marrow is normal. Four overl...
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Myosin is a hexapolypeptide constituted by four light and two heavy chains the isoforms of which segregate differently in specific stages of animal development and in different fiber types in adulthood. In mammals the Myosin Heavy Chains (MHC) are polypeptides with a molecular mass of about 200 KDa which isoforms can be identified by SDS PAGE and/or immunochemistry. A method for the purificatio...
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ژورنال
عنوان ژورنال: Kocaeli Medical Journal
سال: 2020
ISSN: 2147-0758
DOI: 10.5505/ktd.2020.33602