nemaline myopathy type 5

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nemaline myopathy type 5

A form of nemaline myopathy (OMIM:605355), a family of muscular disorders characterised by muscle weakness of varying severity and onset, and abnormal thread- or rod-like structures in muscle fibres on histologic examination. NEM5 is a severe and progressive form seen in Old Order Amish. Affected infants display tremors with hypotonia and mild contractures of the shoulders and hips; proximal contractures progressively weaken and a pectus carinatum develops before infants die of respiratory insufficiency, often by age 2. 

Molecular pathology
Caused by defects of TNNT1, which encodes type-1 troponin T, the slow skeletal troponin T subunit.
References in periodicals archive ?
44 of 1966, records that are over 25 years, which have been reviewed for permanent preservation at the ANM are open for consultation to every researcher.
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