Limb-girdle Muscular Dystrophy Type 2a
What's New
Last Posted: Mar 05, 2023
- Phenotypic and genetic spectrum of patients with limb-girdle muscular dystrophy type 2A from Serbia.
Peric Stojan, et al. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 2019 0 (3) 163-171 - Mutational Spectrum of CAPN3 with Genotype-Phenotype Correlations in Limb Girdle Muscular Dystrophy Type 2A/R1 (LGMD2A/LGMDR1) Patients in India.
Pathak Pankaj, et al. Journal of neuromuscular diseases 2020 12 - Limb-girdle muscular dystrophy type 2A
From NCATS Genetic and Rare Diseases Information Center - LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.
Sáenz A, et al. Brain : a journal of neurology 2005 4 (Pt 4) 732-42
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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- Page last reviewed:Feb 1, 2024
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