Nemaline myopathy 6

Common Name(s)

Nemaline myopathy 6

Nemaline myopathy-6 is an autosomal dominant skeletal muscle disorder characterized by childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles. Patients are unable to run or correct themselves from falling over. Histopathologic changes seen on skeletal muscle biopsy include nemaline rods, cores devoid of oxidative enzyme activity, and predominance of hypertrophic type 1 fibers. There is no cardiac or respiratory involvement (summary by {4:Sambuughin et al., 2010}).
 

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Condition Specific Organizations

Following organizations serve the condition "Nemaline myopathy 6" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

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The terms "Nemaline myopathy 6" returned 1 free, full-text research articles on human participants. First 3 results:

Nemaline myopathy type 6: clinical and myopathological features.
 

Author(s): Montse Olivé, Lev G Goldfarb, Hee-Suk Lee, Zagaa Odgerel, Andre Blokhin, Laura Gonzalez-Mera, Dolores Moreno, Nigel G Laing, Nyamkhishig Sambuughin

Journal: Muscle Nerve. 2010 Dec;42(6):901-7.

 

Nemaline myopathy (NEM) is one of the most common congenital myopathies. A unique subtype, NEM6, maps to chromosome 15q21-q23 in two pedigrees, but the causative gene has not been determined. We conducted clinical examination and myopathological studies in a new NEM family. Genotyping ...

Last Updated: 24 Nov 2010

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