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Limb-Girdle Myasthenia with Tubular Aggregates

Also Known As:

Myasthenia, Limb-Girdle, with Tubular Aggregates

Networked: 4 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Nervous System Diseases: 14178
- Neuromuscular Diseases: 2005
  - Neuromuscular Junction Diseases: 83
    - Congenital Myasthenic Syndromes: 467
      - Limb-Girdle Myasthenia with Tubular Aggregates: 4
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Congenital Myasthenic Syndromes: 467
    - Limb-Girdle Myasthenia with Tubular Aggregates: 4

Related Diseases

1.	Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital)
2.	Inborn Genetic Diseases (Disease, Hereditary)

Experts

1.	Liu, Yu-Tao: 1 article (01/2019)
2.	Luo, Hai-Yang: 1 article (01/2019)
3.	Mao, Cheng-Yuan: 1 article (01/2019)
4.	Niu, Hui-Xia: 1 article (01/2019)
5.	Shi, Chang-He: 1 article (01/2019)
6.	Wang, Yan-Lin: 1 article (01/2019)
7.	Xu, Yu-Ming: 1 article (01/2019)
8.	Yang, Jing: 1 article (01/2019)
9.	Yang, Zhi-Hua: 1 article (01/2019)
10.	Zhao, Lu: 1 article (01/2019)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Limb-Girdle Myasthenia with Tubular Aggregates:

1.	Transaminases (Aminotransferases)IBA 05/01/2016 - "[A case report: limb-girdle myasthenia with tubular aggregates associated with a novel glutamine-fructose-6-phosphate transaminase 1 mutation]." 10/01/2012 - "Limb-girdle myasthenia with tubular aggregates (LGM with TAs) is a subtype of congenital myasthenic syndrome caused by recessive mutations of glutamine-fructose-6-phosphate transaminase 1 (GFPT1). "
2.	Pyridostigmine Bromide (Pyridostigmine)FDA LinkGeneric 12/01/2016 - "Due to a good response to pyridostigmine, a limb-girdle myasthenia with tubular aggregates was suspected, but genetic analyses of GFPT1, DPGAT1, and ALG2 were normal. "
3.	Cholinesterase Inhibitors (Anticholinesterases)IBA 01/01/2019 - "Limb-girdle myasthenia with tubular aggregates, a subtype of congenital myasthenic syndrome, is an extremely rare autosomal recessive genetic disease characterized by prominent limb-girdle weakness and good response to acetylcholinesterase inhibitor therapy. "

Therapies and Procedures

1.	Therapeutics 01/01/2019 - "Limb-girdle myasthenia with tubular aggregates, a subtype of congenital myasthenic syndrome, is an extremely rare autosomal recessive genetic disease characterized by prominent limb-girdle weakness and good response to acetylcholinesterase inhibitor therapy. "