Table 1.

Current disease-causing mutations in MYBPC1 and MYBPC2.

Mutation	Gene	Domain	Inheritance	Organism	Phenotype	Disease	References
W236R	MYBPC1	M-motif	Autosomal dominant	Human	Bilateral clubfoot, camptodactyly with ulnar deviations of the fingers, no facial weakness	Distal Arthrogryposis-1	Gurnett et al., 2010
Y856H	MYBPC1	C8	Autosomal dominant
E359K	MYBPC1	C2	Autosomal dominant	Human	Ulnar deviations of the fingers, camptodactyly, overriding toes and planovalgus in lower limbs, facial anomalies including nasolabial folds and pouting/pinched lips, scoliosis	Distal Arthrogryposis-2	Li et al., 2015
P319L	MYBPC1	C2	Autosomal dominant
R318STOP	MYBPC1	C2	Autosomal recessive	Human	Multiple joint contractures, micrognathia, anterior horn atrophy in spinal cord, fetal akinesia, postnatal lethal	Lethal Congenital Contractural Syndrome 4	Markus et al., 2012
L295R	MYBPC1	M-motif	Unknown	Bull	Muscle tremors, muscle weakness, inability to stand, ataxia, increased muscle tone, reduced spinal reflexes	Distal Arthrogryposis-1 like	Wiedemar et al., 2015
T236I	MYBPC2	M-motif	Compound heterozygote with GPR126 homozygous R7STOP mutation	Human	Narrow thorax, polyhydramnios during development, and postnatal death	Unclassified Distal Arthrogryposis	Bayram et al., 2016
S255T	MYBPC2	M-motif