A type of Ehlers-Danlos syndrome called brittle cornea syndrome is characterized by thinness of the clear covering of the eye (the cornea) and other eye abnormalities. The spondylodysplastic type features short stature and skeletal abnormalities such as abnormally curved (bowed) limbs.

The spectrum of DCTN1-related neurodegeneration includes Perry syndrome, distal hereditary motor neuronopathy type 7B (dHMN7B), frontotemporal dementia (FTD), motor neuron disease / amyotrophic lateral sclerosis (ALS), and progressive supranuclear palsy.

Sep 30, 2010 · Distal hereditary motor neuronopathy type 7B (dHMN7B) is a length-dependent, primarily motor neuropathy [Hwang et al 2016, Zhang et al 2021]. In most individuals it presents between the third to fifth decades, but it can manifest earlier, even at birth.

The Military Labor Type-7B "Brocken" is a series of military labors designed for the West German military and NATO by Schaft Enterprises Europe (SEE). Schaft Enterprises Japan also made use of Brocken labors for security before acquiring the …

Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the DCTN1 gene. The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may …

Definition: An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the DCTN1 gene on 2p13.1. Mutations in human and/or mouse homologs are associated with this disease.

The Type 7B "Blakjak" is our evolution of the military watch specification MIL-W-46374F Type 6, aka the SANDY 660. An updated and improved version informed by our chief designer's two decades of experience modifying, designing and manufacturing tool watches.

Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the DCTN1 gene.

TYPE 736S (MOD) CONCRETE BARRIER 1 ’-0 " 1’-6" #5 @ 8’-TYPE 736S (MOD) CONCRETE BARRIER #5 x 6’-0" @ 8 2 ’-8 " 3 ’-0 " NOTE: TOP OF FOOTING 1 : 1 ... RETAINING WALL TYPE 7B - DETAILS No. 1 h s c h e xs14-375-1 g BARS a b e c d SHORT c K K h v / = 120 pcf = 0.0 0 = 34^ Design: Mononabe-Okabe Method Soil: LS: CT: EQE: Where: NO SCALE ...

Mutations in the Dynactin 1 (DCTN1) gene have been demonstrated to result in various neurodegenerative diseases, including distal hereditary motor neuropathy type 7B (dHMN7B), Perry syndrome, amyotrophic lateral sclerosis and …