Congenital muscular dystrophy and congenital myopathy
Gene: LDB3
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Myofibrillar Myopathy, Dominant; Myopathy, myofibrillar, 4, 609452
Publications
Comment when marking as ready: Adult phenotypeCreated: 3 Feb 2017, 10:52 a.m.
Comment on list classification: Adult presentationCreated: 3 Feb 2017, 10:52 a.m.
Age of onset in reported cases 44 - 73 years therefore not considered appropriate for congenital myopathy panelCreated: 26 Jan 2017, 2:23 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Myopathy, myofibrillar, 4 609452
Publications
gene: LDB3 was added gene: LDB3 was added to Congenital muscular dystrophy and congenital myopathy. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert Review Red Mode of inheritance for gene: LDB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: LDB3 were set to 15668942 Phenotypes for gene: LDB3 were set to Myopathy, myofibrillar, 4, OMIM:609452 Penetrance for gene: LDB3 were set to Complete