ALLMedicine™ Amish Nemaline Myopathy Center
Research & Reviews 7 results
Neuromuscular Disorders : NMD; D'Amico A, Fattori F et. al.
Oct 13th, 2019 - Amish Nemaline Myopathy is a severe form of nemaline myopathy associated to mutation in TNNT1 gene, firstly reported among the Old Order Amish. Here we report two Italian siblings who manifested, by the age of 7 months, progressive and severe musc...
The Journal of Physiology; Oki K, Wei B et. al.
May 31st, 2019 - The pathogenic mechanism and the neuromuscular reflex-related phenotype (e.g. tremors accompanied by clonus) of Amish nemaline myopathy, as well as of other recessively inherited TNNT1 myopathies, remain to be clarified. The truncated slow skeleta...
European Journal of Medical Genetics; Streff H, Bi W et. al.
Nov 6th, 2018 - Amish nemaline myopathy (ANM) is a severe congenital form of NM, known to be fatal in early childhood due to pulmonary insufficiency. Homozygous mutation in TNNT1 was originally ascertained in an Older Amish community in 2000. To date, only five r...
Muscle & Nerve; Marra JD, Engelstad KE et. al.
Nov 29th, 2014 - Nemaline myopathy (NM) is a congenital neuromuscular disorder often characterized by hypotonia, facial weakness, skeletal muscle weakness, and the presence of rods on muscle biopsy. A rare form of nemaline myopathy known as Amish Nemaline Myopathy...
The Journal of Physiology; Wei B, Lu Y et. al.
Jan 22nd, 2014 - The total loss of slow skeletal muscle troponin T (ssTnT encoded by TNNT1 gene) due to a nonsense mutation in codon Glu(180) causes a lethal form of recessively inherited nemaline myopathy (Amish nemaline myopathy, ANM). To investigate the pathoge...