Myofibrillar myopathy in the genomic context
نویسندگان
چکیده
منابع مشابه
Mitochondrial dysfunction in myofibrillar myopathy
Myofibrillar myopathies (MFM) are characterised by focal myofibrillar destruction and accumulation of myofibrillar elements as protein aggregates. They are caused by mutations in the DES, MYOT, CRYAB, FLNC, BAG3, DNAJB6 and ZASP genes as well as other as yet unidentified genes. Previous studies have reported changes in mitochondrial morphology and cellular positioning, as well as clonally-expan...
متن کاملMyofibrillar myopathy: clinical, morphological and genetic studies in 63 patients.
The term myofibrillar myopathy (MFM) was proposed in 1996 as a non-committal term for a pathological pattern of myofibrillar dissolution associated with accumulation of myofibrillar degradation products and ectopic expression of multiple proteins that include desmin, alphaB-crystallin (alphaBC), dystrophin and congophilic amyloid material. Subsequent studies revealed dominant mutations in desmi...
متن کاملBAG3-related myofibrillar myopathy in a Chinese family.
In contrast to the usual slow disease progression in myofibrillar myopathies, patients with Bag3opathy often have a rapidly progressive and more severe phenotype with a worse prognosis. We describe a Chinese patient, born to non-consanguineous parents, who first presented at age 6 with clumsy walking and difficult climbing staircase. With a history of restrictive lung disease previously diagnos...
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چکیده ندارد.
the effect of learning strategies on the speaking ability of iranian students in the context of language institutes
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ژورنال
عنوان ژورنال: Journal of Applied Genetics
سال: 2018
ISSN: 1234-1983,2190-3883
DOI: 10.1007/s13353-018-0463-4