A case of Japanese Laing type distal myopathy with a mutation in <i>MYH7</i> gene
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prevalence of atopic dermatitis in children with type 1 diabetes mellitus in southeastern of iran (kerman province): a case-control study
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15 صفحه اولLaing distal myopathy pathologically resembling inclusion body myositis
Mutations in MYH7 cause autosomal dominant Laing distal myopathy. We present a family with a previously reported deletion (c.5186_5188delAGA, p.K1729del). Muscle pathology in one family member was characterized by an inflammatory myopathy with rimmed vacuoles, increased MHC Class I expression, and perivascular and endomysial muscle inflammation comprising CD3(+), CD4(+), CD8(+), and CD68(+) inf...
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Distal myopathy with rimmed vacuoles (DMRV) is an autosomal recessive or sporadic early adult-onset myopathy caused by mutations in the UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase (GNE) gene. Characteristic pathologic features of DMRV are rimmed vacuoles on muscle biopsy and tubulofilamentous inclusion in ultrastructural study. Presence of inflammation in DMRV is unusual....
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Hearing loss (HL) is the most common sensory defect. Various genetic as well as environmental factors have been shown to contribute in it. More than 100 loci have been recognized to cause autosomal recessive nonsyndromic hearing loss (ARNSHL). Here, we report a 6-year old female patient with bilateral pre-lingual HL in whom a mutation has been identified in TRIOBP gene (c.6362C>T, S2121L). In s...
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ژورنال
عنوان ژورنال: Rinsho Shinkeigaku
سال: 2019
ISSN: 0009-918X,1882-0654
DOI: 10.5692/clinicalneurol.cn-001333