Limb-girdle Muscular Dystrophy, Type 2c
What's New
Last Posted: Oct 26, 2016
- ?-sarcoglycan and dystrophin mutation spectrum in an Algerian cohort.
Dalichaouche Imene, et al. Muscle & nerve 2016 10 - A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics.
Al-Zaidy Samiah A, et al. Molecular genetics & genomic medicine 2015 3 (2) 92-8 - Limb-girdle muscular dystrophy, type 2C
From NCATS Genetic and Rare Diseases Information Center - C283Y gamma-sarcoglycan gene mutation in the Bulgarian Roma (Gypsy) population: prevalence study and carrier screening in a high-risk community.
Georgieva B, et al. Clinical genetics 2004 11 (5) 467-72 - Screening for C283Y gamma-sarcoglycan mutation in a high-risk group of Bulgarian Gypsies: evidence for a geographical localization and a non-random distribution among Gypsy subgroups.
Todorova Albena, et al. Community genetics 2002 0 (4) 217-21
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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