autosomal dominant nemaline myopathy

常染色体優性型ネマリンミオパチー

関

nemaline myopathy

WordNet

1. exercising influence or control; "television plays a dominant role in molding public opinion"; "the dominant partner in the marriage"
2. (music) the fifth note of the diatonic scale
3. (of genes) producing the same phenotype whether its allele is identical or dissimilar
4. of or relating to an autosome; "autosomal gene"
5. any pathology of the muscles that is not attributable to nerve dysfunction

PrepTutorEJDIC

1. 『支配的な』,最も有力な / (位置が)群を抜いて高い,そびえ立つ / (手・目など左右のいずれかが)力のある / (遺伝で)優性の / (音階で)第5度音の,属音の / (遺伝の)優性形質 / 第5度音,属音

UpToDate Contents

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• 1. 先天性ミオパシー congenital myopathies
• 2. アシュケナージ系ユダヤ人集団における遺伝的疾患の保因者スクリーニング carrier screening for genetic disease in the ashkenazi jewish population
• 3. 脊髄性筋萎縮症 spinal muscular atrophy
• 4. 新生児における筋緊張低下を引き起こす末梢神経および筋肉の障害に関する概要 overview of peripheral nerve and muscle disorders causing hypotonia in the newborn
• 5. 常染色体優性尿細管間質性腎臓病（髄質嚢胞性腎疾患） autosomal dominant tubulointerstitial kidney disease medullary cystic kidney disease

English Journal

• An Overview of Congenital Myopathies.

• Mah JK, Joseph JT.
• Continuum (Minneapolis, Minn.).Continuum (Minneap Minn).2016 Dec;22(6, Muscle and Neuromuscular Junction Disorders):1932-1953.
• PURPOSE OF REVIEW: This article uses a case-based approach to highlight the clinical features as well as recent advances in molecular genetics, muscle imaging, and pathophysiology of the congenital myopathies.RECENT FINDINGS: Congenital myopathies refer to a heterogeneous group of genetic neuromuscu
• PMID 27922501

• Muscle weakness in respiratory and peripheral skeletal muscles in a mouse model for nebulin-based nemaline myopathy.

• Joureau B1, de Winter JM1, Stam K1, Granzier H2, Ottenheijm CA3.
• Neuromuscular disorders : NMD.Neuromuscul Disord.2016 Oct 25. pii: S0960-8966(16)30199-7. doi: 10.1016/j.nmd.2016.10.004. [Epub ahead of print]
• Nemaline myopathy is among the most common non-dystrophic congenital myopathies, and is characterized by the presence of nemaline rods in skeletal muscles fibers, general muscle weakness, and hypotonia. Although respiratory failure is the main cause of death in nemaline myopathy, only little is know
• PMID 27890461

• Protein Structure-Function Relationship at Work: Learning from Myopathy Mutations of the Slow Skeletal Muscle Isoform of Troponin T.

• Mondal A1, Jin JP1.
• Frontiers in physiology.Front Physiol.2016 Oct 13;7:449. eCollection 2016.
• Troponin T (TnT) is the sarcomeric thin filament anchoring subunit of the troponin complex in striated muscles. A nonsense mutation in exon 11 of the slow skeletal muscle isoform of TnT (ssTnT) gene (TNNT1) was found in the Amish populations in Pennsylvania and Ohio. This single nucleotide substitut
• PMID 27790152

Japanese Journal

• A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy

• LAING NG.
• Nat Genet 9, 75-79, 1995
• NAID 80008081489

Related Links

• Nemaline myopathy - Genetics Home Reference

Nemaline myopathy is usually inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy ...

• Nemaline Myopathy - GeneReviews™ - NCBI Bookshelf

Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred. Neuromuscul Disord. 2006; 16:113–21. [PubMed: 16427282] ...

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★リンクテーブル★

リンク元	「常染色体優性型ネマリンミオパチー」
関連記事	「dominant」「autosomal」「autosomal dominant」

「常染色体優性型ネマリンミオパチー」

　　[★]

英

autosomal dominant nemaline myopathy

関

ネマリンミオパシー、ネマリンミオパチー

「dominant」

　　[★]

• adj.

• 優性の、優位な、顕性の、優占の、支配的な、ドミナントな

関

dominance、dominantly、manifest、overt、predominance、predominant、predominantly、predominately、prevailing、superior、superiorly

　 　 　 　

「autosomal」

　　[★]

• adj.

• 常染色体性の、常染色体の

関

autosomally、autosome

　

「autosomal dominant」

　　[★]

• 常染色体優性の、常染色体優性遺伝性の