Recessive TTN truncating mutations define novel forms of core myopathy with heart disease. Human Molecular Genetics. 2014 Feb 15;23(4):980-991. [kclpure.kcl.ac.uk]

Recessive TTN truncating mutations define novel forms of core myopathy with heart disease, Human Molecular Genetics, 2014, 980-991, DOI: 10.1093/hmg/ddt494 [paperity.org]

disease Facial abnormalities Respiratory disease Abdominal hernias Fragile long bones AMC Interventions: Infancy Developmental milestones Stretching Splinting Strength Positioning Improving ROM Increase independence Improve ADL's Increase child's motor [quizlet.com]

Disease Heterotaxy Congenital Insensitivity to Pain Syndrome Congenital Lipoid Adrenal Hyperplasia Congenital Merosin Deficient Muscular Dystrophy Congenital Muscular Dystrophy, Type 1C, with Neurologic Abnormalities Congenital Myasthenic Syndrome Congenital [sequencing.com]

disease Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis Refsum disease Spastic paraplegia 25 Camptodactyly-ichthyosis syndrome BRCA1 hereditary breast and ovarian cancer syndrome Multicentric carpotarsal [checkrare.com]

The antenatal form with arthrogryposis is distinguished by the presence of contractures at birth due to reduced fetal movement as well as various physical anomalies. The severity of symptoms is variable. [checkorphan.org]

Two patients from 1 family exhibited prenatal symptoms with reduced fetal movements, polyhydramnios, and hydrops. Most showed delayed motor development and difficulty running in childhood; some patients also reported limited walking distances. [bio2rdf.org]

fetal movement. [2] Also muscle abnormalities could lead to a reduction of fetal movement. [en.wikipedia.org]

Clinical description Presentation of MmD is usually in infancy or childhood with hypotonia or proximal weakness; prenatal onset with reduced fetal movements and polyhydramnios has also been recognized [ 7, 8 ]. [ojrd.biomedcentral.com]

In utero, reduced fetal movements, polyhdramnios Hypotonia and weakness at birth, or in early childhood Ptosis, EOM weakness, hypotonia, facial, pharyngeal, laryngeal, and neck muscle weakness. Proximal and distal weakness; hyporeflexia. [sites.google.com]

Note: Where clinical evaluation suggests complex multisystem involvement (i.e. hypotonia plus) inborn errors of metabolism should be excluded. [dnbpediatrics.com]

RYR1 involvement was also suggested by linkage evidence in four additional families with a similar phenotype, 110 including the original family reported by Swash and Schwartz. 94 RYR1 involvement in the moderate form of MmD with hand involvement was suggested [clinicalgate.com]

Additionally, our results suggest titin kinase implication in cardiac morphogenesis and demonstrate that heterozygous TTN truncating mutations may not manifest unless associated with a second mutation, reassessing the paradigm of their dominant expression [kclpure.kcl.ac.uk]

Regional studies in Northern Ireland [ 3 ] and Western Sweden [ 4 ] suggest a prevalence between 3.5 – 5.0/100,000 in a Paediatric population. [ojrd.biomedcentral.com]

* Short neck Prevention - Minicore myopathy- antenatal onset- with arthrogryposis Not supplied. [checkorphan.org]

Other features included dolichocephaly, prominent nasal root, oblique palpebral fissures, high-arched palate, low-set ears, and short neck with mild pterygium colli. [bio2rdf.org]

All 3 had dolichocephaly, aprominent nasal root, oblique palpebral fissures, a higharched palate, low-set ears, and a short neck with mild Table 3. [docslide.net]

speech and language development and Stage 5 chronic kidney disease, related diseases and genetic alterations Hydrocephalus and Bruising susceptibility, related diseases and genetic alterations Myopathy and Posteriorly rotated ears, related diseases and [mendelian.co]