Congenital Fiber Type Disproportion
Last Posted: Jul 06, 2016
- Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders.
Kitamura Yuri, et al. Journal of human genetics 2016 6
- Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy.
Kraeva N, et al. Neuromuscular disorders : NMD 2015 7 (7) 567-76
- Frequency and phenotype of patients carrying TPM2 and TPM3 gene mutations in a cohort of 94 patients with congenital myopathy.
Citirak Gülsenay, et al. Neuromuscular disorders : NMD 2014 4 (4) 325-30
- Congenital fiber type disproportion
From NCATS Genetic and Rare Diseases Information Center
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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- Page last updated:Jun 06, 2023
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