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 ?
The true significance of ANM as an agricultural sector icon becomes visible in the balance sheet.
In place of the usual two tier market, ANM and the English buyers of its meat were having to operate in a three or even four tier market, due to the higher presence of Irish and continental beef.
ANM plans to use SilverStream for additional high-profile, heavily-trafficked Web sites in the near future.
When the pregnant woman came to centre the ANM nurse was at a sub-centre nearby," Awdhiya said.
Tender notice number : CMO/NHM/E-T-NUHM ANM KIT AND NBSU EQUIP/13.
ANM is one of Egypt's finest museums, inaugurated on December 31, 2003 to be the latest museum to join many others present in the coastal city.
In any event, Provisional Decree 791 provides that the ANM will have powers to, among other matters, implement national policies tor the mining sector, create rules and standards for mining activities, manage mining rights, and oversee the sector, in general.
Arab Center for Engineering Studies (ACES) is currently on track with its part on the Riyadh Metro project, providing specialised services for all three consortia (FAST, ANM and BACS) and their respective subcontractors.
Thus, a total of 12 ANM, 38 AWW, 8 supervisors of the department of health, 8 supervisors of ICDS, 4 subcenters, 18 Anganwadi centers, and 2 PHCs covered in each district.
Finally, the study also assessed whether endogenous sex hormone levels play a role in the link between early ANM and type 2 diabetes.