MOLECULAR STUDY SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, GENE DES, SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4309

Sample:	Whole blood EDTA (10 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	32 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. The identification of FHL1, MHC7, and Des mutations in patients with scapuloperoneal myopathy suggests that myofibrillary disarray may be a common feature of Scapuloperoneal syndrome.
Links:
OMIM Entry - # 181400 - SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE; SCPNK
OMIM Entry - - 125660 - DESMIN; DES

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