Hereditary Myopathy with Lactic Acidosis

Also Known As:

Myopathy with Lactic Acidosis, Hereditary; Iron-Sulfur Cluster Deficiency Myopathy; Myoglobinuria due to Abnormal Glycolysis; Myopathy with Deficiency of ISCU; Myopathy with Deficiency of Iron-Sulfur Cluster Assembly Enzyme; Myopathy with Deficiency of Succinate Dehydrogenase and Aconitase; Myopathy with Exercise Intolerance, Swedish Type

Networked: 8 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Hereditary Myopathy with Lactic Acidosis
2.	Mitochondrial Diseases (Mitochondrial Disease)
3.	Nonketotic Hyperglycinemia
4.	Muscular Diseases (Myopathy)
5.	Friedreich Ataxia (Friedreich's Ataxia)

Experts

1.	Holmberg, Monica: 4 articles (11/2018 - 04/2011)
2.	Nordin, Angelica: 3 articles (11/2018 - 04/2011)
3.	Rawcliffe, Denise F R: 2 articles (11/2018 - 01/2016)
4.	Österman, Lennart: 2 articles (11/2018 - 01/2016)
5.	Larsson, Elin: 2 articles (03/2012 - 04/2011)
6.	Bindoff, Laurence A: 2 articles (02/2012 - 06/2010)
7.	Toompuu, Marina: 2 articles (02/2012 - 06/2010)
8.	Abu Ali, Qais: 1 article (01/2017)
9.	Alfadhel, Majid: 1 article (01/2017)
10.	Hundallah, Khalid: 1 article (01/2017)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Hereditary Myopathy with Lactic Acidosis:

1.	Succinate Dehydrogenase (Fumarate Reductase)IBA 05/01/1995 - "Hereditary myopathy with lactic acidosis, succinate dehydrogenase and aconitase deficiency in northern Sweden: a genealogical study."
2.	Aconitate Hydratase (Aconitase)IBA 05/01/1995 - "Hereditary myopathy with lactic acidosis, succinate dehydrogenase and aconitase deficiency in northern Sweden: a genealogical study."
3.	IronIBA 11/01/2018 - "Hereditary myopathy with lactic acidosis (HML) is an autosomal recessive disease caused by an intron mutation in the iron-sulfur cluster assembly (ISCU) gene. " 01/01/2016 - "Hereditary myopathy with lactic acidosis (HML) is an autosomal recessive disease caused by an intronic one-base mutation in the iron-sulfur cluster assembly (ISCU) gene, resulting in aberrant splicing. " 04/01/2011 - "Hereditary myopathy with lactic acidosis (HML) is caused by an intron mutation in the iron-sulphur cluster assembly gene (ISCU) leading to incorporation of intron sequence into the mRNA. " 06/01/2010 - "Hereditary myopathy with lactic acidosis, or myopathy with exercise intolerance, Swedish type (OMIM #255125) is caused by mutations in the iron-sulfur cluster scaffold (ISCU) gene. " 03/01/2012 - "Hereditary myopathy with lactic acidosis (HML) is caused by an intron mutation in the iron-sulfur cluster assembly gene ISCU, which leads to the activation of cryptic splice sites and the retention of part of intron 4. This incorrect splicing is more pronounced in muscle than in other tissues, resulting in a muscle-specific phenotype. "
4.	sulofenur (ISCU)IBA 11/01/2018 - "PTBP1 acts as a dominant repressor of the aberrant tissue-specific splicing of ISCU in hereditary myopathy with lactic acidosis." 11/01/2018 - "Hereditary myopathy with lactic acidosis (HML) is an autosomal recessive disease caused by an intron mutation in the iron-sulfur cluster assembly (ISCU) gene. " 01/01/2016 - "Hereditary myopathy with lactic acidosis (HML) is an autosomal recessive disease caused by an intronic one-base mutation in the iron-sulfur cluster assembly (ISCU) gene, resulting in aberrant splicing. " 04/01/2011 - "Hereditary myopathy with lactic acidosis (HML) is caused by an intron mutation in the iron-sulphur cluster assembly gene (ISCU) leading to incorporation of intron sequence into the mRNA. " 06/01/2010 - "Hereditary myopathy with lactic acidosis, or myopathy with exercise intolerance, Swedish type (OMIM #255125) is caused by mutations in the iron-sulfur cluster scaffold (ISCU) gene. "
5.	SulfurIBA 11/01/2018 - "Hereditary myopathy with lactic acidosis (HML) is an autosomal recessive disease caused by an intron mutation in the iron-sulfur cluster assembly (ISCU) gene. " 01/01/2016 - "Hereditary myopathy with lactic acidosis (HML) is an autosomal recessive disease caused by an intronic one-base mutation in the iron-sulfur cluster assembly (ISCU) gene, resulting in aberrant splicing. " 06/01/2010 - "Hereditary myopathy with lactic acidosis, or myopathy with exercise intolerance, Swedish type (OMIM #255125) is caused by mutations in the iron-sulfur cluster scaffold (ISCU) gene. " 03/01/2012 - "Hereditary myopathy with lactic acidosis (HML) is caused by an intron mutation in the iron-sulfur cluster assembly gene ISCU, which leads to the activation of cryptic splice sites and the retention of part of intron 4. This incorrect splicing is more pronounced in muscle than in other tissues, resulting in a muscle-specific phenotype. "
6.	GlutaredoxinsIBA 01/01/2017 - "Such diseases include Friedreich ataxia, combined oxidative phosphorylation deficiency 19, infantile complex II/III deficiency defect, hereditary myopathy with lactic acidosis and mitochondrial muscle myopathy, lipoic acid biosynthesis defects, multiple mitochondrial dysfunctions syndromes and non ketotic hyperglycinemia due to glutaredoxin 5 gene defect. "
7.	RNA Splice SitesIBA 03/01/2012 - "Hereditary myopathy with lactic acidosis (HML) is caused by an intron mutation in the iron-sulfur cluster assembly gene ISCU, which leads to the activation of cryptic splice sites and the retention of part of intron 4. This incorrect splicing is more pronounced in muscle than in other tissues, resulting in a muscle-specific phenotype. "
8.	Antisense OligonucleotidesIBA 02/25/2012 - "Antisense oligonucleotide corrects splice abnormality in hereditary myopathy with lactic acidosis."
9.	Messenger RNA (mRNA)IBA 04/01/2011 - "Hereditary myopathy with lactic acidosis (HML) is caused by an intron mutation in the iron-sulphur cluster assembly gene (ISCU) leading to incorporation of intron sequence into the mRNA. "
10.	Thioctic Acid (Lipoic Acid)IBA 01/01/2017 - "Such diseases include Friedreich ataxia, combined oxidative phosphorylation deficiency 19, infantile complex II/III deficiency defect, hereditary myopathy with lactic acidosis and mitochondrial muscle myopathy, lipoic acid biosynthesis defects, multiple mitochondrial dysfunctions syndromes and non ketotic hyperglycinemia due to glutaredoxin 5 gene defect. "