Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C1762617 (
weakness
)
37,932
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Distal hereditary motor neuronopathies (dHMN) are a genetically heterogeneous group of neuromuscular disorders caused by anterior horn cell degeneration and progressive distal muscle
weakness
. A heterozygous missense variant in
FBXO38
has been previously described in two families affected by autosomal-dominant dHMN. In this paper, we describe a homozygous missense variant in
FBXO38
(c.1577G>A; p.(Arg526Gln)) in a young Turkish female, offspring of consanguineous parents, with a congenital mild neuronopathy with idiopathic toe walking, normal sensory examination, and hearing loss. This work is the first to describe a novel homozygous variant and a suggested loss of function mechanism in
FBXO38
, expanding the dHMN type IID phenotype.
...
PMID:A novel homozygous FBXO38 variant causes an early-onset distal hereditary motor neuronopathy type IID. 3142 May 93
