Nemaline myopathy 5

Also Known As:

Amish Nemaline Myopathy; Nemaline Myopathy, Amish Type; Nemaline myopathy, caused by mutation in the troponin t1 gene

Networked: 8 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Musculoskeletal Diseases: 719
- Muscular Diseases: 10128
  - Congenital Structural Myopathies: 407
    - Nemaline Myopathies: 331
      - Nemaline myopathy 5: 8
Nervous System Diseases: 14178
- Neuromuscular Diseases: 2005
  - Muscular Diseases: 10128
    - Congenital Structural Myopathies: 407
      - Nemaline Myopathies: 331
        Nemaline myopathy 5: 8

Related Diseases

1.	Nemaline Myopathies (Nemaline Myopathy)

Experts

1.	Jin, Jian-Ping: 4 articles (01/2019 - 07/2003)
2.	Feng, Han-Zhong: 3 articles (01/2019 - 11/2009)
3.	Wei, Bin: 3 articles (01/2019 - 11/2009)
4.	Jin, J-P: 3 articles (01/2018 - 07/2009)
5.	Hossain, M Moazzem: 2 articles (07/2009 - 07/2003)
6.	Wang, Xin: 2 articles (07/2009 - 04/2005)
7.	Crawford, Thomas O: 2 articles (04/2005 - 07/2003)
8.	Huang, Qi-Quan: 2 articles (04/2005 - 07/2003)
9.	Morton, D Holmes: 2 articles (04/2005 - 07/2003)
10.	Bertini, Enrico: 1 article (10/2019)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Nemaline myopathy 5:

1.	Troponin T (Troponin T1)IBA 01/01/2019 - "The loss of slow skeletal muscle isoform of troponin T in spindle intrafusal fibres explains the pathophysiology of Amish nemaline myopathy." 04/08/2005 - "Cellular fate of truncated slow skeletal muscle troponin T produced by Glu180 nonsense mutation in amish nemaline myopathy." 01/01/2018 - "We describe the natural history of 'Amish' nemaline myopathy (ANM), an infantile-onset, lethal disease linked to a pathogenic c.505G>T nonsense mutation of TNNT1, which encodes the slow fiber isoform of troponin T (TNNT1; a.k.a. " 03/15/2014 - "The total loss of slow skeletal muscle troponin T (ssTnT encoded by TNNT1 gene) due to a nonsense mutation in codon Glu(180) causes a lethal form of recessively inherited nemaline myopathy (Amish nemaline myopathy, ANM). " 07/11/2003 - "A lethal form of nemaline myopathy, named "Amish Nemaline Myopathy" (ANM), is linked to a nonsense mutation at codon Glu180 in the slow skeletal muscle troponin T (TnT) gene. "
2.	Nonsense Codon (Nonsense Mutation)IBA 01/01/2019 - "A nonsense mutation at codon Glu180 of TNNT1 gene causes Amish nemaline myopathy (ANM), a recessively inherited disease with infantile lethality. " 04/08/2005 - "Cellular fate of truncated slow skeletal muscle troponin T produced by Glu180 nonsense mutation in amish nemaline myopathy." 01/01/2018 - "We describe the natural history of 'Amish' nemaline myopathy (ANM), an infantile-onset, lethal disease linked to a pathogenic c.505G>T nonsense mutation of TNNT1, which encodes the slow fiber isoform of troponin T (TNNT1; a.k.a. " 03/15/2014 - "The total loss of slow skeletal muscle troponin T (ssTnT encoded by TNNT1 gene) due to a nonsense mutation in codon Glu(180) causes a lethal form of recessively inherited nemaline myopathy (Amish nemaline myopathy, ANM). " 07/11/2003 - "A lethal form of nemaline myopathy, named "Amish Nemaline Myopathy" (ANM), is linked to a nonsense mutation at codon Glu180 in the slow skeletal muscle troponin T (TnT) gene. "
3.	Trinitrotoluene (TNT)IBA 11/13/2009 - "The data demonstrated a critical role of slow TnT in diaphragm function and in the pathogenesis and pathophysiology of Amish nemaline myopathy." 07/01/2009 - "As combined effects, nonmyofilament-associated intact cardiac TnT and a COOH-terminal truncated slow TnT fragment found in Amish nemaline myopathy exhibited intermediate cytotoxicity. " 04/08/2005 - "We previously reported the absence of intact or prematurely terminated slow TnT polypeptide in Amish nemaline myopathy (ANM) patient muscle. " 07/11/2003 - "A lethal form of nemaline myopathy, named "Amish Nemaline Myopathy" (ANM), is linked to a nonsense mutation at codon Glu180 in the slow skeletal muscle troponin T (TnT) gene. "
4.	Codon (Codons)IBA 01/01/2019 - "A nonsense mutation at codon Glu180 of TNNT1 gene causes Amish nemaline myopathy (ANM), a recessively inherited disease with infantile lethality. " 03/15/2014 - "The total loss of slow skeletal muscle troponin T (ssTnT encoded by TNNT1 gene) due to a nonsense mutation in codon Glu(180) causes a lethal form of recessively inherited nemaline myopathy (Amish nemaline myopathy, ANM). " 07/11/2003 - "A lethal form of nemaline myopathy, named "Amish Nemaline Myopathy" (ANM), is linked to a nonsense mutation at codon Glu180 in the slow skeletal muscle troponin T (TnT) gene. "
5.	Protein Isoforms (Isoforms)IBA 01/01/2019 - "The loss of slow skeletal muscle isoform of troponin T in spindle intrafusal fibres explains the pathophysiology of Amish nemaline myopathy." 01/01/2018 - "We describe the natural history of 'Amish' nemaline myopathy (ANM), an infantile-onset, lethal disease linked to a pathogenic c.505G>T nonsense mutation of TNNT1, which encodes the slow fiber isoform of troponin T (TNNT1; a.k.a. "
6.	Troponin IIBA 10/01/2019 - "'Amish Nemaline Myopathy' in 2 Italian siblings harbouring a novel homozygous mutation in Troponin-I gene."
7.	Peptides (Polypeptides)IBA 04/08/2005 - "We previously reported the absence of intact or prematurely terminated slow TnT polypeptide in Amish nemaline myopathy (ANM) patient muscle. "