familial myoglobinuria

家族性ミオグロビン尿症

WordNet

1. relating to or having the characteristics of a family; "children of the same familial background"; "familial aggregation"
2. occurring among members of a family usually by heredity; "an inherited disease"; "familial traits"; "genetically transmitted features" (同)genetic, hereditary, inherited, transmitted, transmissible
3. the presence of myoglobin in the urine

PrepTutorEJDIC

1. 家族の,家族特有の / 違伝的な,血統にあらわれる

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• 1. 代謝性ミオパチーへのアプローチ approach to the metabolic myopathies
• 2. ウイルス性筋炎 viral myositis
• 3. 横紋筋融解症の臨床症状および診断 clinical manifestations and diagnosis of rhabdomyolysis
• 4. 悪性高熱症：臨床診断および急性期のマネージメント malignant hyperthermia clinical diagnosis and management of acute crisis
• 5. 環境および兵器による電気的損傷 environmental and weapon related electrical injuries

English Journal

• Novel ANO5 homozygous microdeletion causing myalgia and unprovoked rhabdomyolysis in an Arabic man.

• Lahoria R1, Winder TL, Lui J, Al-Owain MA, Milone M.
• Muscle & nerve.Muscle Nerve.2014 Oct;50(4):610-3. doi: 10.1002/mus.24302. Epub 2014 Aug 30.
• INTRODUCTION: Recessive mutations in the anoctamin-5 gene (ANO5) cause a spectrum of clinical phenotypes, including limb-girdle muscular dystrophy (LGMD 2L), distal myopathy, and asymptomatic hyperCKemia.METHODS: In this report we describe our clinical, electrophysiological, pathological, and molecu
• PMID 24889862

• Rhabdomyolysis: review of the literature.

• Zutt R1, van der Kooi AJ2, Linthorst GE3, Wanders RJ4, de Visser M5.
• Neuromuscular disorders : NMD.Neuromuscul Disord.2014 Aug;24(8):651-9. doi: 10.1016/j.nmd.2014.05.005. Epub 2014 May 21.
• Rhabdomyolysis is a serious and potentially life threatening condition. Although consensus criteria for rhabdomyolysis is lacking, a reasonable definition is elevation of serum creatine kinase activity of at least 10 times the upper limit of normal followed by a rapid decrease of the sCK level to (n
• PMID 24946698

• Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy.

• Spiegel R1, Saada A2, Halvardson J3, Soiferman D2, Shaag A2, Edvardson S2, Horovitz Y4, Khayat M5, Shalev SA5, Feuk L3, Elpeleg O2.
• European journal of human genetics : EJHG.Eur J Hum Genet.2014 Jul;22(7):902-6. doi: 10.1038/ejhg.2013.269. Epub 2013 Nov 27.
• Isolated metabolic myopathies encompass a heterogeneous group of disorders, with mitochondrial myopathies being a subgroup, with depleted skeletal muscle energy production manifesting either by recurrent episodes of myoglobinuria or progressive muscle weakness. In this study, we investigated the gen
• PMID 24281368

Japanese Journal

• Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients

• Nat Genet 4, 314-320, 1993
• NAID 30013798062

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★リンクテーブル★

リンク元	「家族性ミオグロビン尿症」
関連記事	「familial」

「家族性ミオグロビン尿症」

　　[★]

英

familial myoglobinuria

同

家族性横紋筋融解症 familial rhabdomyolysis

「familial」

　　[★]

• adj.

• 家族性の、家系性の、家族の

関

family、family member、household、kindred