Amish, Mennonite, and Hutterite
Genetic Disorder Database

Nemaline myopathy 5

Disorder
OMIM #: #605355  (Click to access OMIM database)
Disorder: Nemaline myopathy 5 
Also known as: NEM 5
Amish nemaline myopathy
ANM 
Clinical
Phenotype: Symptoms present in first months of life; tremors, hypotonicity, joint limitation and/or contractures of shoulders and hips, pectus carinatum, respiratory distress which leads to death usually within the second year 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: TNNT1
Base Change: G>T, at nucleotide 538
Amino Acid Change: glu 180 --> term
2   Old Colony Mennonite  
Gene: TNNT1
Base Change:
Amino Acid Change: whole gene deletion
3   Amish  
Gene: TNNT1
Base Change: G>T, at nucleotide 505
Amino Acid Change:
Last updated: 2019-07-10 

References
Fox MD, Carson VJ, Feng HZ, Lawlor MW, Gray JT, Brigatti KW, Jin JP, Strauss KA. (2018) TNNT1 nemaline myopathy: Natural history and therapeutic frontier. Hum Mol Genet Jun 20.
PubMed ID: 29931346 
Johnston JJ, Kelley RI, Crawford TO, Morton DH, Agarwala R, Koch T, Schaffer AA, Francomano CA, Biesecker LG. (2000) A novel nemaline myopathy in the Amish caused by a mutation in troponin T1. Am J Hum Genet 67:814-821.
PubMed ID: 10952871 
Oki K, Wei B, Feng HZ, Jin JP. (2019) The loss of slow skeletal muscle isoform of troponin T in spindle intrafusal fibres explains the pathophysiology of Amish nemaline myopathy. J Physiol
PubMed ID: 31148174 
Personal communication; seen at CSC.  
Streff H, Bi W, Colón AG, Adesina AM, Miyake CY, Lalani SR. (2018) Amish nemaline myopathy and dilated cardiomyopathy caused by a homozygous contiguous gene deletion of TNNT1 and TNNI3 in a Mennonite child. Eur J Med Genet Nov 3. pii: S1769-7212(18)30209-X.
PubMed ID: 30395933 

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