MOLECULAR STUDY LIMB GIRDLE MUSCULAR DYSTROPHY DUE TO CALPAIN DEFICIENCY , (CAPN3 GENE), SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4177

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	42 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. The prevalence of autosomal recessive and sporadic LGMD cases has been estimated to 1/200,000. The age at onset is extremely variable. The rate of deterioration varies between families, intrafamilial variation is not very obvious. The disease has a much lesser severity than Duchenne muscular dystrophy, and can be very mild. Respiratory, but not cardiac complications have been described. Confinement to a wheelchair occurs at the earliest 11-18 years after the onset of symptoms. Serum creatine kinase (CK) activity is often more than 20 times elevated. LGMD2A is transmitted as an autosomal recessive form. Among theses cases, 33% are caused by mutation in the gene encoding the proteolytic enzyme calpain-3 (CAPN3) that is located on chromosome 15q15. No specific treatment is known and many patients receive physical therapy to prevent worsening of contractures.
Links:
OMIM Entry - # 253600 - MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A
Orphanet- Autosomal recessive limb girdle muscular dystrophy type 2A
OMIM Entry - - 114240 - CALPAIN 3; CAPN3

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