Condition: NEMALINE MYOPATHY 5


rs1156410888 in TNNT1 gene and NEMALINE MYOPATHY 5 PMID 10952871 2000 A novel nemaline myopathy in the Amish caused by a mutation in troponin T1.

PMID 24689076 2014 Nemaline myopathy caused byTNNT1 mutations in a Dutch pedigree.

PMID 25430424 2015 Identification of a novel nemaline myopathy-causing mutation in the troponin T1 (TNNT1) gene: a case outside of the old order Amish.

PMID 15665378 2005 Cellular fate of truncated slow skeletal muscle troponin T produced by Glu180 nonsense mutation in amish nemaline myopathy.

PMID 27429059 2016 Functional Basis of Three New Recessive Mutations of Slow Skeletal Muscle Troponin T Found in Non-Amish TNNT1 Nemaline Myopathies.

PMID 12732643 2003 Truncation by Glu180 nonsense mutation results in complete loss of slow skeletal muscle troponin T in a lethal nemaline myopathy.