|
1
|
Hall JG, Reed SD and Greene G: The distal
arthrogryposes: Delineation of new entities-review and nosologic
discussion. Am J Med Genet. 11:185–239. 1982. View Article : Google Scholar : PubMed/NCBI
|
|
2
|
Bamshad M, Jorde LB and Carey JC: A
revised and extended classification of the distal arthrogryposes.
Am J Med Genet. 65:277–281. 1996. View Article : Google Scholar : PubMed/NCBI
|
|
3
|
Tajsharghi H, Kimber E, Holmgren D,
Tulinius M and Oldfors A: Distal arthrogryposis and muscle weakness
associated with a beta-tropomyosin mutation. Neurology. 68:772–775.
2007. View Article : Google Scholar : PubMed/NCBI
|
|
4
|
Krakowiak PA, O'Quinn JR, Bohnsack JF,
Watkins WS, Carey JC, Jorde LB and Bamshad M: A variant of
Freeman-Sheldon syndrome maps to 11p15.5-pter. Am J Hum Genet.
60:426–432. 1997.PubMed/NCBI
|
|
5
|
Stevenson DA, Swoboda KJ, Sanders RK and
Bamshad M: A new distal arthrogryposis syndrome characterized by
plantar flexion contractures. Am J Med Genet A. 140:2797–2801.
2006. View Article : Google Scholar : PubMed/NCBI
|
|
6
|
Gurnett CA, Desruisseau DM, McCall K, Choi
R, Meyer ZI, Talerico M, Miller SE, Ju JS, Pestronk A, Connolly AM,
et al: Myosin binding protein C1: A novel gene for autosomal
dominant distal arthrogryposis type 1. Hum Mol Genet. 19:1165–1173.
2010. View Article : Google Scholar : PubMed/NCBI
|
|
7
|
Ma L and Yu X: Arthrogryposis multiplex
congenita: Classification, diagnosis, perioperative care, and
anesthesia. Front Med. 11:48–52. 2017. View Article : Google Scholar : PubMed/NCBI
|
|
8
|
Bamshad M, Van Heest AE and Pleasure D:
Arthrogryposis: A review and update. J Bone Joint Surg Am. 91
(Suppl 4):S40–S46. 2009. View Article : Google Scholar
|
|
9
|
Toydemir RM, Rutherford A, Whitby FG,
Jorde LB, Carey JC and Bamshad MJ: Mutations in embryonic myosin
heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall
syndrome. Nat Genet. 38:561–565. 2006. View
Article : Google Scholar : PubMed/NCBI
|
|
10
|
Toydemir RM and Bamshad MJ: Sheldon-Hall
syndrome. Orphanet J Rare Dis. 4:112009. View Article : Google Scholar : PubMed/NCBI
|
|
11
|
Sung SS, Brassington AM, Grannatt K,
Rutherford A, Whitby FG, Krakowiak PA, Jorde LB, Carey JC and
Bamshad M: Mutations in genes encoding fast-twitch contractile
proteins cause distal arthrogryposis syndromes. Am J Hum Genet.
72:681–690. 2003. View
Article : Google Scholar : PubMed/NCBI
|
|
12
|
Sung SS, Brassington AM, Krakowiak PA,
Carey JC, Jorde LB and Bamshad M: Mutations in TNNT3 cause multiple
congenital contractures: A second locus for distal arthrogryposis
type 2B. Am J Hum Genet. 73:212–214. 2003. View Article : Google Scholar : PubMed/NCBI
|
|
13
|
Robinson P, Lipscomb S, Preston LC, Altin
E, Watkins H, Ashley CC and Redwood CS: Mutations in fast skeletal
troponin I, troponin T, and beta-tropomyosin that cause distal
arthrogryposis all increase contractile function. FASEB J.
21:896–905. 2007. View Article : Google Scholar : PubMed/NCBI
|
|
14
|
Alamo L, Ware JS, Pinto A, Gillilan RE,
Seidman JG, Seidman CE and Padrón R: Effects of myosin variants on
interacting-heads motif explain distinct hypertrophic and dilated
cardiomyopathy phenotypes. Elife. 6:e246342017. View Article : Google Scholar : PubMed/NCBI
|
|
15
|
Tajsharghi H, Kimber E, Kroksmark AK,
Jerre R, Tulinius M and Oldfors A: Embryonic myosin heavy-chain
mutations cause distal arthrogryposis and developmental myosin
myopathy that persists postnatally. Arch Neurol. 65:1083–1090.
2008. View Article : Google Scholar : PubMed/NCBI
|
|
16
|
Beck AE, McMillin MJ, Gildersleeve HI,
Kezele PR, Shively KM, Carey JC, Regnier M and Bamshad MJ: Spectrum
of mutations that cause distal arthrogryposis types 1 and 2B. Am J
Med Genet A 161A. 550–555. 2013. View Article : Google Scholar
|
|
17
|
Scala M, Accogli A, De Grandis E, Allegri
A, Bagowski CP, Shoukier M, Maghnie M and Capra V: A novel
pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and
vertebral fusions. Am J Med Genet A. 176:663–667. 2018. View Article : Google Scholar : PubMed/NCBI
|
|
18
|
Hague J, Delon I, Brugger K, Martin H,
Abbs S and Park SM: Molecularly proven mosaicism in phenotypically
normal parent of a girl with Freeman-Sheldon syndrome caused by a
pathogenic MYH3 mutation. Am J Med Genet A. 170:1608–1612. 2016.
View Article : Google Scholar : PubMed/NCBI
|
|
19
|
Alvarado DM, Buchan JG, Gurnett CA and
Dobbs MB: Exome sequencing identifies an MYH3 mutation in a family
with distal arthrogryposis type 1. J Bone Joint Surg Am.
93:1045–1050. 2011. View Article : Google Scholar : PubMed/NCBI
|
|
20
|
Chong JX, Burrage LC, Beck AE, Marvin CT,
McMillin MJ, Shively KM, Harrell TM, Buckingham KJ, Bacino CA, Jain
M, et al: Autosomal-dominant multiple pterygium syndrome is caused
by mutations in MYH3. Am J Hum Genet. 96:841–849. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
21
|
Al-Numair NS, Lopes L, Syrris P, Syrris P,
Monserrat L, Elliott P and Martin AC: The structural effects of
mutations can aid in differential phenotype prediction of
beta-myosin heavy chain (Myosin-7) missense variants.
Bioinformatics. 32:2947–2955. 2016. View Article : Google Scholar : PubMed/NCBI
|
|
22
|
Sherry ST, Ward MH, Kholodov M, Baker J,
Phan L, Smigielski EM and Sirotkin K: dbSNP: The NCBI database of
genetic variation. Nucleic Acids Res. 29:308–311. 2001. View Article : Google Scholar : PubMed/NCBI
|
|
23
|
Thorisson GA, Smith AV, Krishnan L and
Stein LD: The international hapmap project web site. Genome Res.
15:1592–1593. 2005. View Article : Google Scholar : PubMed/NCBI
|
|
24
|
Lorenz TC: Polymerase chain reaction:
Basic protocol plus troubleshooting and optimization strategies. J
Vis Exp. 22:e39982012.
|
|
25
|
Baumann M, Steichen-Gersdorf E, Krabichler
B, Petersen BS, Weber U, Schmidt WM, Zschocke J, Müller T, Bittner
RE and Janecke AR: Homozygous SYNE1 mutation causes congenital
onset of muscular weakness with distal arthrogryposis: A
genotype-phenotype correlation. Eur J Hum Genet. 25:262–266. 2017.
View Article : Google Scholar : PubMed/NCBI
|
|
26
|
Eller M, Stedman HH, Sylvester JE, Fertels
SH, Wu QL, Raychowdhury MK, Rubinstein NA, Kelly AM and Sarkar S:
Human embryonic myosin heavy chain cDNA. Interspecies sequence
conservation of the myosin rod, chromosomal locus and isoform
specific transcription of the gene. FEBS Lett. 256:21–28. 1989.
View Article : Google Scholar : PubMed/NCBI
|
|
27
|
Al-Haggar M, Yahia S, Damjanovich K, Ahmad
N, Hamada I and Bayrak-Toydemir P: p.R672C mutation of MYH3 gene in
an Egyptian infant presented with Freeman-Sheldon syndrome. Indian
J Pediatr. 78:103–105. 2011. View Article : Google Scholar : PubMed/NCBI
|
|
28
|
Allingham JS, Smith R and Rayment I: The
structural basis of blebbistatin inhibition and specificity for
myosin II. Nat Struct Mol Biol. 12:378–379. 2005. View Article : Google Scholar : PubMed/NCBI
|
