EP.126Congenital fiber type disproportion related to novel autosomal dominant mutation in TNNT1


Troponin T (TnT) is the tropomyosin binding subunit of troponin complex playing a central role in striated muscle contraction. Biallelic mutations in slow skeletal muscle TnT, encoded by TNNT1, have been reported to cause a rare form of nemaline myopathy (NM). The first TNNT1-NM has been associated to a single founder mutation in patients of Amish origin (ANM). Other three NM families have been reported later with different recessive loss-of-function mutations in TNNT1. Clinical phenotype in TNNT1-NM families is characterized by hypotonia, facial weakness, tremors (only in ANM), respiratory insufficiency and proximal weakness of varying severity.


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