Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: a novel gene related to nuclear envelopathies
G Kayman-Kurekci, B Talim, P Korkusuz, N Sayar… - Neuromuscular …, 2014 - Elsevier
We performed genome-wide homozygosity mapping and mapped a novel myopathic
phenotype to chromosomal region 1q25 in a consanguineous family with three affected
individuals manifesting proximal and distal weakness and atrophy, rigid spine and
contractures of the proximal and distal interphalangeal hand joints. Additionally,
cardiomyopathy and respiratory involvement were noted. DNA sequencing of torsinA-
interacting protein 1 (TOR1AIP1) gene encoding lamina-associated polypeptide 1B …
phenotype to chromosomal region 1q25 in a consanguineous family with three affected
individuals manifesting proximal and distal weakness and atrophy, rigid spine and
contractures of the proximal and distal interphalangeal hand joints. Additionally,
cardiomyopathy and respiratory involvement were noted. DNA sequencing of torsinA-
interacting protein 1 (TOR1AIP1) gene encoding lamina-associated polypeptide 1B …