×
About 15 results

ALLMedicine™ Amish Nemaline Myopathy Center

Research & Reviews  6 results

'Amish Nemaline Myopathy' in 2 Italian siblings harbouring a novel homozygous mutation ...
https://doi.org/10.1016/j.nmd.2019.09.005
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 loss of slow skeletal muscle isoform of troponin T in spindle intrafusal fibres exp...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6675633
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...

Amish nemaline myopathy and dilated cardiomyopathy caused by a homozygous contiguous ge...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7237049
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...

Identification of a novel nemaline myopathy-causing mutation in the troponin T1 (TNNT1)...
https://doi.org/10.1002/mus.24528
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...

Amish Nemaline Myopathy
https://rarediseases.info.nih.gov/diseases/8334/amish-nemaline-myopathy

Oct 1st, 2010 - The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98902 Definition A type of nemaline myopathy (NM) only observed in several families of the Amish community. Clinic...

see more →