MOLECULAR STUDY MYOFIBRILLAR MYOPATHY (MYOT) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4344

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	40 days
Information:
Myofibrillar myopathies (MFM) are a clinically and genetically heterogeneous group of neuromuscular disorders with a common morphological phenotype. MFM are characterized by myofibrillar structural changes comprising abnormal intracellular accumulations of the intermediate filament desmin and other proteins. The clinical manifestations are variable and the dominant clinical feature is usually a slowly progressive muscular weakness. In a subset of patients cardiomyopathy and peripheral neuropathy are also present. Onset occurs in adulthood in the majority of patients and some patients have a rapidly progressive clinical course. Diagnosis is made on the basis of muscle biopsies revealing abnormal intracellular protein inclusions. In most MFM patients, the molecular basis of the disease is unknown. A small proportion of MFM patients carry disease-associated mutations. At least six genes have been associated with myofibrillar myopathy. Mutations in these six genes account for approximately half of all cases of this condition. Mutations in the DES, MYOT, and LDB3 genes are responsible for the majority of cases of myofibrillar myopathy when the genetic cause is known. At present, there is no disease-specific therapy available.
Links:
Myofibrillar myopathy - Genetics Home Reference
OMIM Entry - # 609200 - MYOPATHY, MYOFIBRILLAR, 3; MFM3
Orphanet- Myofibrillar myopathy
OMIM Entry - - 604103 - MYOTILIN; MYOT

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