Limb-girdle muscular dystrophy 2C, gamma-sarcoglycan deficiency (Q86054): Difference between revisions
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A distrofia muscular de cinturas autossômica recessiva tipo 2C, ou gama-sarcoglicanopatia é uma distrofia muscular da cintura escapular (LGMD), um grupo de distúrbios caracterizados por fraqueza muscular progressiva predominantemente ou principalmente envolvendo a musculatura pélvica ou da cintura escapular, e é caracterizada por asas escapulares e hipertrofia da panturrilha com início antes dos 10 anos de idade. O envolvimento cardíaco ocorre em cerca de 20% dos casos. | |||
| description / en | description / en | ||
Autosomal recessive limb-girdle muscular dystrophy type 2C, or gamma-sarcoglycanopathy is a limb girdle muscular dystrophy (LGMD), a group of disorders characterised by progressive muscle weakness predominantly or primarily involving the pelvic or shoulder girdle musculature, and is characterised by scapular winging and calf hypertrophy with onset before 10 years of age. Cardiac involvement occurs in about 20% of cases. | |||
Revision as of 11:25, 15 August 2026
Autosomal recessive limb-girdle muscular dystrophy type 2C, or gamma-sarcoglycanopathy is a limb girdle muscular dystrophy (LGMD), a group of disorders characterised by progressive muscle weakness predominantly or primarily involving the pelvic or shoulder girdle musculature, and is characterised by scapular winging and calf hypertrophy with onset before 10 years of age. Cardiac involvement occurs in about 20% of cases.
| Language | Label | Description | Also known as |
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| default for all languages | ID_440038386 |
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| English | Limb-girdle muscular dystrophy 2C, gamma-sarcoglycan deficiency |
Autosomal recessive limb-girdle muscular dystrophy type 2C, or gamma-sarcoglycanopathy is a limb girdle muscular dystrophy (LGMD), a group of disorders characterised by progressive muscle weakness predominantly or primarily involving the pelvic or shoulder girdle musculature, and is characterised by scapular winging and calf hypertrophy with onset before 10 years of age. Cardiac involvement occurs in about 20% of cases. |
