𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Novel SOD1 N86K mutation is associated with a severe phenotype in familial ALS

✍ Scribed by Marcus Beck; Michael Sendtner; Klaus V. Toyka

Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
259 KB
Volume
36
Category
Article
ISSN
0148-639X

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

Familial amyotrophic lateral sclerosis (ALS) is frequently associated with mutations in the SOD1 gene. We identified a rapidly progressive disease in a patient with an inherited ALS. The identified heterozygous T>A exchange in position 1067 in the SOD1 gene results in an amino acid substitution of lysine for asparagine at position 86 (N86K) of the SOD1 protein. The family history suggested that this autosomal dominantly inherited mutation may be associated with rapidly progressive disease. Muscle Nerve, 2007

πŸ“œ SIMILAR VOLUMES

Clinicopathological phenotype of ALS wit
Clinicopathological phenotype of ALS with a novel G72C SOD1 gene mutation mimicking a myopathy
✍ H.G. Stewart; I.R. Mackenzie; A. Eisen; T. BrΓ€nnstrΓΆm; S.L. Marklund; P.M. Ander πŸ“‚ Article πŸ“… 2006 πŸ› John Wiley and Sons 🌐 English βš– 310 KB

## Abstract A 71‐year‐old woman with a family history of amyotrophic lateral sclerosis (ALS) was investigated for symmetrical, proximal limb and abdominal muscle weakness. Initial examination showed mild proximal muscle weakness in the arms and legs, slightly elevated serum creatine kinase (CK) lev

A Novel Mutation (D305V) in the early gr
A Novel Mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease
✍ Emilia Bellone; Emilio Di Maria; Silvia Soriani; Alessandra Varese; Laura Lamba πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 18 KB πŸ‘ 3 views

Hereditary motor and sensory neuropathies (HMSN) comprises a wide clinical spectrum of related disorders with defects in peripheral nerve myelination. Charcot-Marie-Tooth type 1 (CMT1) is the most common form and is usually a mild disease with onset in the first or second decade; however there is a