MOLECULAR STUDY SCAPULOPERONEAL SYNDROME, MIOPATHIC TYPE, MYH7 GENE, SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4310

Sample:	Whole blood EDTA (10 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	47 days
Information:
MYH7-related scapuloperoneal myopathy is an inherited muscular dystrophy characterized by weakness and wasting of the muscles in the lower legs and the area of the shoulder blades. In some individuals, facial muscles may also be affected. While the progression varies from case to case, it tends to be relatively slow. Some cases of scapuloperoneal myopathy are caused by mutations in the MYH7 gene. Autosomal dominant inheritance is suggested in these cases. Treatment is symptomatic and supportive. MYH7-related scapuloperoneal myopathy is caused by mutations in the MYH7 gene. This gene, located on chromosome 14q12, provides instructions for making a protein known as the cardiac beta (?)-myosin heavy chain. This protein is found in heart (cardiac) muscle and in type I skeletal muscle fibers. Type I fibers are the primary component of skeletal muscles that are resistant to fatigue.
Links:
OMIM Entry - # 181430 - SCAPULOPERONEAL MYOPATHY, MYH7-RELATED; SPMM
OMIM Entry - - 160760 - MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA; MYH7

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