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About 14 results

ALLMedicine™ Amish Nemaline Myopathy Center

Research & Reviews  7 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 12th, 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 30th, 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 5th, 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 28th, 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...

Deficiency of slow skeletal muscle troponin T causes atrophy of type I slow fibres and ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3961093
The Journal of Physiology; Wei B, Lu Y et. al.

Jan 21st, 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...

see more →

Clinicaltrials.gov  7 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 12th, 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 30th, 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 5th, 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 28th, 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...

Deficiency of slow skeletal muscle troponin T causes atrophy of type I slow fibres and ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3961093
The Journal of Physiology; Wei B, Lu Y et. al.

Jan 21st, 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...

see more →