MOLECULAR STUDY LIMB-GIRDLE MUSCULAR DYSTROPHY-LGMD1C (CAV3) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4110

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	30 days
Information:
Limb girdle muscular dystrophy (LGMD) constitutes a group of genetically determined, progressive muscle weakness disorders, in which the pelvic or shoulder girdle musculature is predominantly or primarily involved. Rippling syndrome may be present. LGMD 1C is characterized by childhood onset. It has not been associated with cardiac problems. Serum creatine kinase (CK) activity can be markedly elevated. LGMD 1C is transmitted as an autosomal dominant form and is caused by mutation in the gene CAV3 that is located on chromosome 3p25.
Links:
OMIM Entry - # 607801 - MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C; LGMD1C
Orphanet- Autosomal dominant limb girdle muscular dystrophy type 1C LGMD1C
OMIM Entry - - 601253 - CAVEOLIN 3; CAV3

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