Sentence examples for mutations cause autosomal from inspiring English sources

Mutations cause autosomal recessive nemaline myopathy, distal nebulin myopathy and core-rod myopathy, for which no therapy is available.

Mutations cause autosomal recessive nemaline myopathy, distal myopathy and core-rod myopathy, for which no therapy is available.

Its mutations cause autosomal dominant Parkinson's disease.

All of the dominant TWINKLE mutations cause autosomal dominant progressive external ophthalmoplegia (adPEO) with exercise intolerance and muscle weakness, most severely affecting ocular muscles (14, 19).

In summary, the identification of a homozygous 2347 bp genomic deletion in AMBN identifies for the first time that AMBN mutations cause autosomal recessive hypoplastic human AI.

Pathogenic OPA1 mutations cause autosomal dominant optic atrophy (DOA), a condition characterized by the preferential loss of retinal ganglion cells and progressive optic nerve degeneration.

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia.

This finding was well aligned with the clinical phenotype, because paraplegin was mutated in hereditary spastic paraplegia type 7 (SPG7), and heterozygous AFG3L2 mutations caused autosomal dominant spinocerebellar ataxia type 28 (SCAtorinotorino et al., 2003; Koppen et al., 2007).

Also, AE1 mutations causing autosomal recessive dRTA and haemolytic anaemia have been described [ 46].

Lastly, gene content of LCSHs larger than 5 Mb was also studied to uncover potential homozygous mutations causing autosomal recessive disorders.

Patient 9, with PA, has a maternally inherited duplication involving the calcium channel, voltage-dependent l type alpha 1C subunit (CACNA1C) gene, likely not affecting expression as loss of function mutations causes autosomal dominant cardiac conduction abnormalities (Brugada syndrome, MIM 611875; Timothy syndrome, MIM 601005).