MOLECULAR STUDY CENTRONUCLEAR MYOPATHY (DNM2) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 3921

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	¡
TAT (Days):	40 days
Information:
Autosomal dominant centronuclear myopathy (AD-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy. The exact prevalence remains unknown. Most commonly, the age of onset is in adolescence, although earlier presentations in infancy or childhood have been reported. Muscle weakness of variable severity is the major clinical manifestation. Marked ocular involvement including ptosis and ophthalmoparesis are common, whilst contractures other than those affecting the Achilles tendon and/or long finger flexors are rare. Cardiorespiratory function has been reported as normal in most cases. Patients with early onset may improve in terms of muscle strength but may develop restrictive respiratory impairment over time. Neuropathic signs (absence of tendon reflexes on neurological examination and fibrillations or reduction of the compound muscle action potential on electrophysiological examination) may be present. Mutations in the dynamin 2 (DNM2) gene on chromosome 19p13.2 are responsible for AD-CNM.

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